ClinVar

NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)

Genes:

HRC:histidine rich calcium binding protein [Gene - OMIM - HGNC]
TRPM4:transient receptor potential cation channel subfamily M member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19q13.33

Genomic location:

• Chr19: 49182608 (on Assembly GRCh38)
• Chr19: 49685865 (on Assembly GRCh37)

Preferred name:

NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)

HGVS:

• NC_000019.10:g.49182608G>A
• NG_027551.2:g.29850G>A
• NM_001195227.2:c.1294G>A
• NM_001321281.2:c.949G>A
• NM_001321282.2:c.-260G>A
• NM_001321283.2:c.772G>A
• NM_001321285.2:c.232G>A
• NM_017636.4:c.1294G>AMANE SELECT
• NP_001182156.1:p.Ala432Thr
• NP_001308210.1:p.Ala317Thr
• NP_001308212.1:p.Ala258Thr
• NP_001308214.1:p.Ala78Thr
• NP_060106.2:p.Ala432Thr
• NC_000019.9:g.49685865G>A
• NG_027551.1:g.29850G>A
• NM_017636.3:c.1294G>A
• Q8TD43:p.Ala432Thr

This HGVS expression did not pass validation

Protein change:

A258T; ALA432THR

Links:

UniProtKB: Q8TD43#VAR_066767; OMIM: 606936.0002; dbSNP: rs201907325

NCBI 1000 Genomes Browser:

rs201907325

Molecular consequence:

• NM_001321282.2:c.-260G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001195227.2:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321281.2:c.949G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321283.2:c.772G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321285.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_017636.4:c.1294G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1