ClinVar

NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)

Gene:

NKX2-5:NK2 homeobox 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q35.1

Genomic location:

• Chr5: 173233050 (on Assembly GRCh38)
• Chr5: 172660053 (on Assembly GRCh37)

Preferred name:

NM_004387.4(NKX2-5):c.494C>T (p.Ala165Val)

HGVS:

• NC_000005.10:g.173233050G>A
• NG_013340.1:g.7263C>T
• NM_001166175.2:c.*447C>T
• NM_001166176.2:c.*293C>T
• NM_004387.4:c.494C>TMANE SELECT
• NP_004378.1:p.Ala165Val
• LRG_671t1:c.494C>T
• LRG_671:g.7263C>T
• LRG_671p1:p.Ala165Val
• NC_000005.9:g.172660053G>A
• NM_004387.3:c.494C>T

This HGVS expression did not pass validation

Protein change:

A165V

Links:

dbSNP: rs984722259

NCBI 1000 Genomes Browser:

rs984722259

Molecular consequence:

• NM_001166175.2:c.*447C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001166176.2:c.*293C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_004387.4:c.494C>T - missense variant - [Sequence Ontology: SO:0001583]