ClinVar

NM_000526.5(KRT14):c.818A>G (p.Asp273Gly)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41583869 (on Assembly GRCh38)
• Chr17: 39740121 (on Assembly GRCh37)

Preferred name:

NM_000526.5(KRT14):c.818A>G (p.Asp273Gly)

HGVS:

• NC_000017.11:g.41583869T>C
• NG_008624.1:g.8027A>G
• NM_000526.5:c.818A>GMANE SELECT
• NP_000517.3:p.Asp273Gly
• NC_000017.10:g.39740121T>C
• NM_000526.4:c.818A>G
• P02533:p.Asp273Gly

This HGVS expression did not pass validation

Protein change:

D273G

Links:

UniProtKB: P02533#VAR_010448; dbSNP: rs59375065

NCBI 1000 Genomes Browser:

rs59375065

Molecular consequence:

• NM_000526.5:c.818A>G - missense variant - [Sequence Ontology: SO:0001583]