ClinVar

NM_002273.4(KRT8):c.1265G>T (p.Gly422Val)

Gene:

KRT8:keratin 8 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 52897615 (on Assembly GRCh38)
• Chr12: 53291399 (on Assembly GRCh37)

Preferred name:

NM_002273.4(KRT8):c.1265G>T (p.Gly422Val)

HGVS:

• NC_000012.12:g.52897615C>A
• NG_008402.2:g.57252G>T
• NM_001256282.2:c.1349G>T
• NM_001256293.2:c.1265G>T
• NM_002273.4:c.1265G>TMANE SELECT
• NP_001243211.1:p.Gly450Val
• NP_001243222.1:p.Gly422Val
• NP_002264.1:p.Gly422Val
• NC_000012.11:g.53291399C>A
• NM_002273.3:c.1265G>T
• NR_045962.2:n.1716G>T

This HGVS expression did not pass validation

Protein change:

G422V

Links:

dbSNP: rs753856393

NCBI 1000 Genomes Browser:

rs753856393

Molecular consequence:

• NM_001256282.2:c.1349G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001256293.2:c.1265G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002273.4:c.1265G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_045962.2:n.1716G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]