MCID: QLT013
MIFTS: 10

Qualitative or Quantitative Defects of Beta-Sarcoglycan

Categories: Rare diseases

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

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

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

Classifications:



External Ids:

Orphanet 58 ORPHA207063

Summaries for Qualitative or Quantitative Defects of Beta-Sarcoglycan

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

Related Diseases for Qualitative or Quantitative Defects of Beta-Sarcoglycan

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

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

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

Genetic Tests for Qualitative or Quantitative Defects of Beta-Sarcoglycan

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

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

Anatomical Context for Qualitative or Quantitative Defects of Beta-Sarcoglycan

Publications for Qualitative or Quantitative Defects of Beta-Sarcoglycan

Variations for Qualitative or Quantitative Defects of Beta-Sarcoglycan

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

6 (show top 50) (show all 91) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SGCB NM_000232.4(SGCB):c.341C>T (p.Ser114Phe)SNV Pathogenic/Likely pathogenic 42035 rs150518260 4:52895932-52895932 4:52029766-52029766
2 SGCB NM_000232.4(SGCB):c.1_2del (p.Met1fs)deletion Pathogenic/Likely pathogenic 282860 rs886042503 4:52904424-52904425 4:52038258-52038259
3 SGCB NM_000232.4(SGCB):c.31C>T (p.Gln11Ter)SNV Pathogenic/Likely pathogenic 284502 rs752492870 4:52904395-52904395 4:52038229-52038229
4 SGCB NM_000232.4(SGCB):c.799C>T (p.Arg267Cys)SNV Conflicting interpretations of pathogenicity 283043 rs200761715 4:52890281-52890281 4:52024115-52024115
5 SGCB NM_000232.4(SGCB):c.368A>C (p.Tyr123Ser)SNV Conflicting interpretations of pathogenicity 92661 rs398123263 4:52895905-52895905 4:52029739-52029739
6 SGCB NM_000232.4(SGCB):c.943G>A (p.Gly315Arg)SNV Conflicting interpretations of pathogenicity 255606 rs150395645 4:52890137-52890137 4:52023971-52023971
7 SGCB NM_000232.5(SGCB):c.939C>T (p.Pro313=)SNV Conflicting interpretations of pathogenicity 767636 4:52890141-52890141 4:52023975-52023975
8 SGCB NM_000232.5(SGCB):c.519G>A (p.Pro173=)SNV Conflicting interpretations of pathogenicity 746533 4:52894998-52894998 4:52028832-52028832
9 SGCB NM_000232.4(SGCB):c.495C>T (p.Asp165=)SNV Conflicting interpretations of pathogenicity 288286 rs142801720 4:52895022-52895022 4:52028856-52028856
10 SGCB NM_000232.4(SGCB):c.*1105A>GSNV Conflicting interpretations of pathogenicity 348872 rs77404139 4:52889018-52889018 4:52022852-52022852
11 SGCB NM_000232.4(SGCB):c.*2286T>ASNV Conflicting interpretations of pathogenicity 348857 rs116538326 4:52887837-52887837 4:52021671-52021671
12 SGCB NM_000232.4(SGCB):c.*2907T>CSNV Conflicting interpretations of pathogenicity 348851 rs138349341 4:52887216-52887216 4:52021050-52021050
13 SGCB NM_000232.4(SGCB):c.*1125T>ASNV Conflicting interpretations of pathogenicity 348868 rs146235069 4:52888998-52888998 4:52022832-52022832
14 SGCB NM_000232.4(SGCB):c.34-9C>ASNV Conflicting interpretations of pathogenicity 348883 rs886059439 4:52899815-52899815 4:52033649-52033649
15 SGCB NM_000232.4(SGCB):c.*724C>TSNV Conflicting interpretations of pathogenicity 348875 rs79282232 4:52889399-52889399 4:52023233-52023233
16 SGCB NM_000232.4(SGCB):c.798C>A (p.Thr266=)SNV Conflicting interpretations of pathogenicity 348882 rs182784793 4:52890282-52890282 4:52024116-52024116
17 SGCB NM_000232.4(SGCB):c.-16C>GSNV Conflicting interpretations of pathogenicity 381511 rs1057521057 4:52904441-52904441 4:52038275-52038275
18 SGCB NM_000232.4(SGCB):c.*375G>TSNV Uncertain significance 348879 rs886059437 4:52889748-52889748 4:52023582-52023582
19 SGCB NM_000232.4(SGCB):c.*175A>GSNV Uncertain significance 348880 rs886059438 4:52889948-52889948 4:52023782-52023782
20 SGCB NM_000232.4(SGCB):c.*23A>TSNV Uncertain significance 348881 rs759376332 4:52890100-52890100 4:52023934-52023934
21 SGCB NM_000232.4(SGCB):c.*1127A>GSNV Uncertain significance 348867 rs886059432 4:52888996-52888996 4:52022830-52022830
22 SGCB NM_000232.4(SGCB):c.-5G>TSNV Uncertain significance 348884 rs886059440 4:52904430-52904430 4:52038264-52038264
23 SGCB NM_000232.4(SGCB):c.-30G>CSNV Uncertain significance 348887 rs886059441 4:52904455-52904455 4:52038289-52038289
24 SGCB NM_000232.4(SGCB):c.-59C>GSNV Uncertain significance 348888 rs535392972 4:52904484-52904484 4:52038318-52038318
25 SGCB NM_000232.4(SGCB):c.*1115G>TSNV Uncertain significance 348870 rs866935393 4:52889008-52889008 4:52022842-52022842
26 SGCB NM_000232.4(SGCB):c.*847T>CSNV Uncertain significance 348874 rs886059434 4:52889276-52889276 4:52023110-52023110
27 SGCB NM_000232.4(SGCB):c.*2764G>ASNV Uncertain significance 348853 rs886059426 4:52887359-52887359 4:52021193-52021193
28 SGCB NM_000232.4(SGCB):c.*2707T>CSNV Uncertain significance 348854 rs574973588 4:52887416-52887416 4:52021250-52021250
29 SGCB NM_000232.4(SGCB):c.*2166T>CSNV Uncertain significance 348858 rs192993435 4:52887957-52887957 4:52021791-52021791
30 SGCB NM_000232.4(SGCB):c.*2129deldeletion Uncertain significance 348859 rs767446127 4:52887994-52887994 4:52021828-52021828
31 SGCB NM_000232.4(SGCB):c.*1722_*1726deldeletion Uncertain significance 348862 rs764828611 4:52888397-52888401 4:52022231-52022235
32 SGCB NM_000232.4(SGCB):c.29A>G (p.Glu10Gly)SNV Uncertain significance 577280 rs1452778513 4:52904397-52904397 4:52038231-52038231
33 SGCB NM_000232.4(SGCB):c.*2984G>ASNV Uncertain significance 348849 rs574951031 4:52887139-52887139 4:52020973-52020973
34 SGCB NM_000232.4(SGCB):c.*507A>GSNV Uncertain significance 348878 rs886059436 4:52889616-52889616 4:52023450-52023450
35 SGCB NM_000232.4(SGCB):c.-18G>ASNV Uncertain significance 348885 rs368914658 4:52904443-52904443 4:52038277-52038277
36 SGCB NM_000232.4(SGCB):c.*2956_*2960deldeletion Uncertain significance 348850 rs886059425 4:52887163-52887167 4:52020997-52021001
37 SGCB NM_000232.4(SGCB):c.*2351C>TSNV Uncertain significance 348856 rs886059428 4:52887772-52887772 4:52021606-52021606
38 SGCB NM_000232.4(SGCB):c.*1118G>TSNV Uncertain significance 348869 rs886059433 4:52889005-52889005 4:52022839-52022839
39 SGCB NM_000232.4(SGCB):c.*1002G>ASNV Uncertain significance 348873 rs543319107 4:52889121-52889121 4:52022955-52022955
40 SGCB NM_000232.4(SGCB):c.*669T>GSNV Uncertain significance 348876 rs886059435 4:52889454-52889454 4:52023288-52023288
41 SGCB NM_000232.4(SGCB):c.*3258G>CSNV Uncertain significance 348847 rs182133472 4:52886865-52886865 4:52020699-52020699
42 SGCB NM_000232.4(SGCB):c.*3216A>GSNV Uncertain significance 348848 rs774980532 4:52886907-52886907 4:52020741-52020741
43 SGCB NM_000232.4(SGCB):c.*2811G>ASNV Uncertain significance 348852 rs561817001 4:52887312-52887312 4:52021146-52021146
44 SGCB NM_000232.4(SGCB):c.*2580C>TSNV Uncertain significance 348855 rs886059427 4:52887543-52887543 4:52021377-52021377
45 SGCB NM_000232.4(SGCB):c.*1648dupduplication Uncertain significance 348863 rs886059430 4:52888474-52888475 4:52022308-52022309
46 SGCB NM_000232.4(SGCB):c.*1135C>GSNV Uncertain significance 348866 rs886059431 4:52888988-52888988 4:52022822-52022822
47 SGCB NM_000232.4(SGCB):c.*1113G>ASNV Uncertain significance 348871 rs76630071 4:52889010-52889010 4:52022844-52022844
48 SGCB NM_000232.5(SGCB):c.*3213G>TSNV Uncertain significance 901470 4:52886910-52886910 4:52020744-52020744
49 SGCB NM_000232.5(SGCB):c.*3136T>CSNV Uncertain significance 901471 4:52886987-52886987 4:52020821-52020821
50 SGCB NM_000232.5(SGCB):c.*3056T>GSNV Uncertain significance 902043 4:52887067-52887067 4:52020901-52020901

Expression for Qualitative or Quantitative Defects of Beta-Sarcoglycan

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

Pathways for Qualitative or Quantitative Defects of Beta-Sarcoglycan

GO Terms for Qualitative or Quantitative Defects of Beta-Sarcoglycan

Sources for Qualitative or Quantitative Defects of Beta-Sarcoglycan

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