ClinVar

NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41583275 (on Assembly GRCh38)
• Chr17: 39739527 (on Assembly GRCh37)

Preferred name:

NM_000526.5(KRT14):c.1234A>T (p.Ile412Phe)

HGVS:

• NC_000017.11:g.41583275T>A
• NG_008624.1:g.8621A>T
• NM_000526.5:c.1234A>TMANE SELECT
• NP_000517.3:p.Ile412Phe
• NC_000017.10:g.39739527T>A
• NM_000526.4:c.1234A>T

This HGVS expression did not pass validation

Protein change:

I412F

Links:

dbSNP: rs267607403

NCBI 1000 Genomes Browser:

rs267607403

Molecular consequence:

• NM_000526.5:c.1234A>T - missense variant - [Sequence Ontology: SO:0001583]