MCID: QLT007
MIFTS: 11

Qualitative or Quantitative Defects of Delta-Sarcoglycan

Categories: Rare diseases

Aliases & Classifications for Qualitative or Quantitative Defects of Delta-Sarcoglycan

MalaCards integrated aliases for Qualitative or Quantitative Defects of Delta-Sarcoglycan:

Name: Qualitative or Quantitative Defects of Delta-Sarcoglycan 58 29 6

Classifications:



External Ids:

Orphanet 58 ORPHA207070

Summaries for Qualitative or Quantitative Defects of Delta-Sarcoglycan

MalaCards based summary : Qualitative or Quantitative Defects of Delta-Sarcoglycan An important gene associated with Qualitative or Quantitative Defects of Delta-Sarcoglycan is SGCD (Sarcoglycan Delta).

Related Diseases for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Symptoms & Phenotypes for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Drugs & Therapeutics for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Search Clinical Trials , NIH Clinical Center for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Genetic Tests for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Genetic tests related to Qualitative or Quantitative Defects of Delta-Sarcoglycan:

# Genetic test Affiliating Genes
1 Qualitative or Quantitative Defects of Delta-Sarcoglycan 29

Anatomical Context for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Publications for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Variations for Qualitative or Quantitative Defects of Delta-Sarcoglycan

ClinVar genetic disease variations for Qualitative or Quantitative Defects of Delta-Sarcoglycan:

6 (show top 50) (show all 213) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SGCD NM_000337.5(SGCD):c.832G>A (p.Ala278Thr)SNV Conflicting interpretations of pathogenicity 464023 rs753240054 5:156186360-156186360 5:156759349-156759349
2 SGCD NM_000337.5(SGCD):c.3+14G>ASNV Conflicting interpretations of pathogenicity 506908 rs538229806 5:155756603-155756603 5:156329593-156329593
3 SGCD NM_000337.5(SGCD):c.848A>G (p.Gln283Arg)SNV Conflicting interpretations of pathogenicity 43358 rs397516338 5:156186376-156186376 5:156759365-156759365
4 SGCD NM_000337.5(SGCD):c.-372C>GSNV Conflicting interpretations of pathogenicity 48112 rs7717393 5:155753914-155753914 5:156326904-156326904
5 SGCD NM_000337.5(SGCD):c.-412A>TSNV Conflicting interpretations of pathogenicity 48113 rs7724969 5:155753874-155753874 5:156326864-156326864
6 SGCD NM_000337.5(SGCD):c.123C>G (p.Leu41=)SNV Conflicting interpretations of pathogenicity 48115 rs200670993 5:155771618-155771618 5:156344608-156344608
7 SGCD NM_000337.5(SGCD):c.213G>A (p.Arg71=)SNV Conflicting interpretations of pathogenicity 48116 rs74846539 5:155935631-155935631 5:156508621-156508621
8 SGCD NM_000337.5(SGCD):c.-44+11G>ASNV Conflicting interpretations of pathogenicity 179031 rs184722381 5:155754253-155754253 5:156327243-156327243
9 SGCD NM_000337.5(SGCD):c.*6917C>TSNV Conflicting interpretations of pathogenicity 352433 rs549743616 5:156193318-156193318 5:156766307-156766307
10 SGCD NM_000337.5(SGCD):c.*7521G>ASNV Conflicting interpretations of pathogenicity 352442 rs150418759 5:156193922-156193922 5:156766911-156766911
11 SGCD NM_000337.5(SGCD):c.*5663A>GSNV Conflicting interpretations of pathogenicity 352408 rs151214419 5:156192064-156192064 5:156765053-156765053
12 SGCD NM_000337.5(SGCD):c.*3868C>ASNV Conflicting interpretations of pathogenicity 352378 rs181847929 5:156190269-156190269 5:156763258-156763258
13 SGCD NM_000337.5(SGCD):c.-30G>ASNV Conflicting interpretations of pathogenicity 352331 rs374043017 5:155756557-155756557 5:156329547-156329547
14 SGCD NM_000337.5(SGCD):c.510G>A (p.Glu170=)SNV Conflicting interpretations of pathogenicity 352335 rs368838376 5:156074481-156074481 5:156647471-156647471
15 SGCD NM_000337.5(SGCD):c.717G>A (p.Ala239=)SNV Conflicting interpretations of pathogenicity 378577 rs145430692 5:156186245-156186245 5:156759234-156759234
16 SGCD NM_000337.5(SGCD):c.*8110A>CSNV Uncertain significance 352452 rs796540027 5:156194511-156194511 5:156767500-156767500
17 SGCD NM_000337.5(SGCD):c.*4340_*4341dupduplication Uncertain significance 352388 rs556887176 5:156190730-156190731 5:156763719-156763720
18 SGCD NM_000337.5(SGCD):c.*4559C>ASNV Uncertain significance 352392 rs554101371 5:156190960-156190960 5:156763949-156763949
19 SGCD NM_000337.5(SGCD):c.*5201T>CSNV Uncertain significance 352402 rs532318823 5:156191602-156191602 5:156764591-156764591
20 SGCD NM_000337.5(SGCD):c.*6045A>GSNV Uncertain significance 352417 rs886060312 5:156192446-156192446 5:156765435-156765435
21 SGCD NM_000337.5(SGCD):c.*6065A>GSNV Uncertain significance 352418 rs183129118 5:156192466-156192466 5:156765455-156765455
22 SGCD NM_000337.5(SGCD):c.*6564T>CSNV Uncertain significance 352423 rs578061606 5:156192965-156192965 5:156765954-156765954
23 SGCD NM_000337.5(SGCD):c.*6660deldeletion Uncertain significance 352426 rs57240389 5:156193046-156193046 5:156766035-156766035
24 SGCD NM_000337.5(SGCD):c.*6660dupduplication Uncertain significance 352425 rs57240389 5:156193045-156193046 5:156766034-156766035
25 SGCD NM_000337.5(SGCD):c.*5928G>TSNV Uncertain significance 352414 rs886060311 5:156192329-156192329 5:156765318-156765318
26 SGCD NM_000337.5(SGCD):c.*6785C>TSNV Uncertain significance 352431 rs886060318 5:156193186-156193186 5:156766175-156766175
27 SGCD NM_000337.5(SGCD):c.*7506C>GSNV Uncertain significance 352440 rs778555167 5:156193907-156193907 5:156766896-156766896
28 SGCD NM_000337.5(SGCD):c.193-10T>ASNV Uncertain significance 352332 rs886060285 5:155935601-155935601 5:156508591-156508591
29 SGCD NM_000337.5(SGCD):c.*7219G>CSNV Uncertain significance 352435 rs886060320 5:156193620-156193620 5:156766609-156766609
30 SGCD NM_000337.5(SGCD):c.*7559G>CSNV Uncertain significance 352443 rs751653849 5:156193960-156193960 5:156766949-156766949
31 SGCD NM_000337.5(SGCD):c.*7871G>CSNV Uncertain significance 352449 rs549398788 5:156194272-156194272 5:156767261-156767261
32 SGCD NM_000337.5(SGCD):c.*8113_*8114dupduplication Uncertain significance 352451 rs397736317 5:156194495-156194496 5:156767484-156767485
33 SGCD NM_000337.5(SGCD):c.*8380A>GSNV Uncertain significance 352454 rs556296196 5:156194781-156194781 5:156767770-156767770
34 SGCD NM_000337.5(SGCD):c.*3918_*3921dupduplication Uncertain significance 352380 rs886060303 5:156190317-156190318 5:156763306-156763307
35 SGCD NM_000337.5(SGCD):c.*3961C>TSNV Uncertain significance 352381 rs886060304 5:156190362-156190362 5:156763351-156763351
36 SGCD NM_000337.5(SGCD):c.*4608G>ASNV Uncertain significance 352393 rs541428502 5:156191009-156191009 5:156763998-156763998
37 SGCD NM_000337.5(SGCD):c.*4993A>CSNV Uncertain significance 352398 rs62382385 5:156191394-156191394 5:156764383-156764383
38 SGCD NM_000337.5(SGCD):c.*6016G>ASNV Uncertain significance 352416 rs764539028 5:156192417-156192417 5:156765406-156765406
39 SGCD NM_000337.5(SGCD):c.*158G>ASNV Uncertain significance 352339 rs187465743 5:156186559-156186559 5:156759548-156759548
40 SGCD NM_000337.5(SGCD):c.*560C>TSNV Uncertain significance 352344 rs886060290 5:156186961-156186961 5:156759950-156759950
41 SGCD NM_000337.5(SGCD):c.*767A>TSNV Uncertain significance 352346 rs886060291 5:156187168-156187168 5:156760157-156760157
42 SGCD NM_000337.5(SGCD):c.*906C>TSNV Uncertain significance 352349 rs886060292 5:156187307-156187307 5:156760296-156760296
43 SGCD NM_000337.5(SGCD):c.*1171C>ASNV Uncertain significance 352351 rs528794571 5:156187572-156187572 5:156760561-156760561
44 SGCD NM_000337.5(SGCD):c.*1856A>TSNV Uncertain significance 352357 rs886060295 5:156188257-156188257 5:156761246-156761246
45 SGCD NM_000337.5(SGCD):c.*3420C>TSNV Uncertain significance 352370 rs886060299 5:156189821-156189821 5:156762810-156762810
46 SGCD NM_000337.5(SGCD):c.*3845T>CSNV Uncertain significance 352377 rs528838126 5:156190246-156190246 5:156763235-156763235
47 SGCD NM_000337.5(SGCD):c.*5749C>TSNV Uncertain significance 352410 rs886060310 5:156192150-156192150 5:156765139-156765139
48 SGCD NM_000337.5(SGCD):c.*5061C>GSNV Uncertain significance 352400 rs886060308 5:156191462-156191462 5:156764451-156764451
49 SGCD NM_000337.5(SGCD):c.*3361T>CSNV Uncertain significance 352368 rs886060298 5:156189762-156189762 5:156762751-156762751
50 SGCD NM_000337.5(SGCD):c.*3491G>ASNV Uncertain significance 352371 rs886060300 5:156189892-156189892 5:156762881-156762881

Expression for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Search GEO for disease gene expression data for Qualitative or Quantitative Defects of Delta-Sarcoglycan.

Pathways for Qualitative or Quantitative Defects of Delta-Sarcoglycan

GO Terms for Qualitative or Quantitative Defects of Delta-Sarcoglycan

Sources for Qualitative or Quantitative Defects of Delta-Sarcoglycan

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