SSQTL1
MCID: SDM005
MIFTS: 8

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 58 30 6 41
Sodium Serum Level Qtl 1 58
Ssqtl1 58

Classifications:



External Ids:

OMIM 58 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).

Description 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

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 30 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 Year
1
A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia. ( 19666518 )
2009

Variations for Sodium Serum Level Quantitative Trait Locus 1

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

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh37 Chromosome 12, 110238470: 110238470
2 TRPV4 NM_021625.4(TRPV4): c.806G> A (p.Arg269His) single nucleotide variant Pathogenic/Likely pathogenic rs267607144 GRCh38 Chromosome 12, 109800665: 109800665
3 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh37 Chromosome 12, 110252547: 110252547
4 TRPV4 NM_021625.4(TRPV4): c.55C> T (p.Pro19Ser) single nucleotide variant Benign rs3742030 GRCh38 Chromosome 12, 109814742: 109814742
5 TRPV4 NM_021625.4(TRPV4): c.1976C> T (p.Ser659Leu) single nucleotide variant Uncertain significance rs779715512 GRCh37 Chromosome 12, 110226437: 110226437
6 TRPV4 NM_021625.4(TRPV4): c.1976C> T (p.Ser659Leu) single nucleotide variant Uncertain significance rs779715512 GRCh38 Chromosome 12, 109788632: 109788632
7 TRPV4 NM_021625.4(TRPV4): c.569C> T (p.Thr190Met) single nucleotide variant Uncertain significance rs1031096826 GRCh37 Chromosome 12, 110240939: 110240939
8 TRPV4 NM_021625.4(TRPV4): c.569C> T (p.Thr190Met) single nucleotide variant Uncertain significance rs1031096826 GRCh38 Chromosome 12, 109803134: 109803134
9 TRPV4 NM_021625.4(TRPV4): c.2425G> A (p.Gly809Ser) single nucleotide variant Uncertain significance rs375851168 GRCh37 Chromosome 12, 110222154: 110222154
10 TRPV4 NM_021625.4(TRPV4): c.2425G> A (p.Gly809Ser) single nucleotide variant Uncertain significance rs375851168 GRCh38 Chromosome 12, 109784349: 109784349
11 TRPV4 NM_021625.4(TRPV4): c.1376T> G (p.Leu459Arg) single nucleotide variant Uncertain significance rs201132615 GRCh37 Chromosome 12, 110232249: 110232249
12 TRPV4 NM_021625.4(TRPV4): c.1376T> G (p.Leu459Arg) single nucleotide variant Uncertain significance rs201132615 GRCh38 Chromosome 12, 109794444: 109794444
13 TRPV4 NM_021625.4(TRPV4): c.184G> A (p.Asp62Asn) single nucleotide variant Uncertain significance GRCh37 Chromosome 12, 110252418: 110252418
14 TRPV4 NM_021625.4(TRPV4): c.184G> A (p.Asp62Asn) single nucleotide variant Uncertain significance GRCh38 Chromosome 12, 109814613: 109814613

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

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