SSQTL1
MCID: SDM005
MIFTS: 10

Sodium Serum Level Quantitative Trait Locus 1 (SSQTL1)

Categories: Genetic diseases

Aliases & Classifications for Sodium Serum Level Quantitative Trait Locus 1

MalaCards integrated aliases for Sodium Serum Level Quantitative Trait Locus 1:

Name: Sodium Serum Level Quantitative Trait Locus 1 57 29 6 39
Sodium Serum Level Qtl 1 57
Ssqtl1 57

Classifications:



External Ids:

OMIM® 57 613508

Summaries for Sodium Serum Level Quantitative Trait Locus 1

MalaCards based summary : Sodium Serum Level Quantitative Trait Locus 1, is also known as sodium serum level qtl 1. An important gene associated with Sodium Serum Level Quantitative Trait Locus 1 is TRPV4 (Transient Receptor Potential Cation Channel Subfamily V Member 4).

More information from OMIM: 613508

Related Diseases for Sodium Serum Level Quantitative Trait Locus 1

Symptoms & Phenotypes for Sodium Serum Level Quantitative Trait Locus 1

Clinical features from OMIM®:

613508 (Updated 20-May-2021)

Drugs & Therapeutics for Sodium Serum Level Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Sodium Serum Level Quantitative Trait Locus 1

Genetic Tests for Sodium Serum Level Quantitative Trait Locus 1

Genetic tests related to Sodium Serum Level Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Sodium Serum Level Quantitative Trait Locus 1 29 TRPV4

Anatomical Context for Sodium Serum Level Quantitative Trait Locus 1

Publications for Sodium Serum Level Quantitative Trait Locus 1

Articles related to Sodium Serum Level Quantitative Trait Locus 1:

# Title Authors PMID Year
1
A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. 57 6
19666518 2009

Variations for Sodium Serum Level Quantitative Trait Locus 1

ClinVar genetic disease variations for Sodium Serum Level Quantitative Trait Locus 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TRPV4 NM_021625.4(TRPV4):c.55C>T (p.Pro19Ser) SNV association 5003 rs3742030 GRCh37: 12:110252547-110252547
GRCh38: 12:109814742-109814742
2 TRPV4 NM_021625.4(TRPV4):c.806G>A (p.Arg269His) SNV Pathogenic 5000 rs267607144 GRCh37: 12:110238470-110238470
GRCh38: 12:109800665-109800665
3 TRPV4 NM_021625.4(TRPV4):c.184G>A (p.Asp62Asn) SNV Uncertain significance 575960 rs770149544 GRCh37: 12:110252418-110252418
GRCh38: 12:109814613-109814613
4 TRPV4 NM_021625.4(TRPV4):c.569C>T (p.Thr190Met) SNV Uncertain significance 424209 rs1031096826 GRCh37: 12:110240939-110240939
GRCh38: 12:109803134-109803134
5 TRPV4 NM_021625.4(TRPV4):c.1376T>G (p.Leu459Arg) SNV Uncertain significance 521109 rs201132615 GRCh37: 12:110232249-110232249
GRCh38: 12:109794444-109794444
6 TRPV4 NM_021625.4(TRPV4):c.1976C>T (p.Ser659Leu) SNV Uncertain significance 409288 rs779715512 GRCh37: 12:110226437-110226437
GRCh38: 12:109788632-109788632
7 TRPV4 NM_021625.4(TRPV4):c.2425G>A (p.Gly809Ser) SNV Uncertain significance 448709 rs375851168 GRCh37: 12:110222154-110222154
GRCh38: 12:109784349-109784349

Expression for Sodium Serum Level Quantitative Trait Locus 1

Search GEO for disease gene expression data for Sodium Serum Level Quantitative Trait Locus 1.

Pathways for Sodium Serum Level Quantitative Trait Locus 1

GO Terms for Sodium Serum Level Quantitative Trait Locus 1

Sources for Sodium Serum Level Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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