ClinVar

NM_001252024.2(TRPM1):c.2952+258T>A

Gene:

TRPM1:transient receptor potential cation channel subfamily M member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q13.3

Genomic location:

• Chr15: 31032431 (on Assembly GRCh38)
• Chr15: 31324634 (on Assembly GRCh37)

Preferred name:

NM_001252024.2(TRPM1):c.2952+258T>A

HGVS:

• NC_000015.10:g.31032431A>T
• NG_016453.2:g.133843T>A
• NM_001252020.2:c.3003+258T>A
• NM_001252024.2:c.2952+258T>AMANE SELECT
• NM_002420.6:c.2886+258T>A
• NC_000015.9:g.31324634A>T

This HGVS expression did not pass validation

Links:

dbSNP: rs2162070

NCBI 1000 Genomes Browser:

rs2162070

Molecular consequence:

• NM_001252020.2:c.3003+258T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001252024.2:c.2952+258T>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_002420.6:c.2886+258T>A - intron variant - [Sequence Ontology: SO:0001627]