ClinVar

NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)

Gene:

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: 49200328 (on Assembly GRCh38)
• Chr19: 49703585 (on Assembly GRCh37)

Preferred name:

NM_017636.4(TRPM4):c.2674C>T (p.Arg892Cys)

HGVS:

• NC_000019.10:g.49200328C>T
• NG_027551.2:g.47570C>T
• NM_001195227.2:c.2239C>T
• NM_001321281.2:c.2329C>T
• NM_001321282.2:c.1066C>T
• NM_001321283.2:c.2152C>T
• NM_001321285.2:c.1612C>T
• NM_017636.4:c.2674C>TMANE SELECT
• NP_001182156.1:p.Arg747Cys
• NP_001308210.1:p.Arg777Cys
• NP_001308211.1:p.Arg356Cys
• NP_001308212.1:p.Arg718Cys
• NP_001308214.1:p.Arg538Cys
• NP_060106.2:p.Arg892Cys
• NC_000019.9:g.49703585C>T
• NG_027551.1:g.47570C>T
• NM_017636.2:c.2674C>T
• NM_017636.3:c.2674C>T

This HGVS expression did not pass validation

Protein change:

R356C

Links:

dbSNP: rs147854826

NCBI 1000 Genomes Browser:

rs147854826

Molecular consequence:

• NM_001195227.2:c.2239C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321281.2:c.2329C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321282.2:c.1066C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321283.2:c.2152C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321285.2:c.1612C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_017636.4:c.2674C>T - missense variant - [Sequence Ontology: SO:0001583]