ClinVar

NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys)

Gene:

KRT6A:keratin 6A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 52488371 (on Assembly GRCh38)
• Chr12: 52882155 (on Assembly GRCh37)

Preferred name:

NM_005554.4(KRT6A):c.1381G>A (p.Glu461Lys)

HGVS:

• NC_000012.12:g.52488371C>T
• NG_008298.1:g.10027G>A
• NM_005554.4:c.1381G>AMANE SELECT
• NP_005545.1:p.Glu461Lys
• LRG_1294t1:c.1381G>A
• LRG_1294:g.10027G>A
• LRG_1294p1:p.Glu461Lys
• NC_000012.11:g.52882155C>T
• NM_005554.3:c.1381G>A

This HGVS expression did not pass validation

Protein change:

E461K

Links:

dbSNP: rs267607468

NCBI 1000 Genomes Browser:

rs267607468

Molecular consequence:

• NM_005554.4:c.1381G>A - missense variant - [Sequence Ontology: SO:0001583]