ClinVar

NM_005554.4(KRT6A):c.1303C>T (p.Gln435Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12q13.13

Genomic location:

• Chr12: 52488449 (on Assembly GRCh38)
• Chr12: 52882233 (on Assembly GRCh37)

Preferred name:

NM_005554.4(KRT6A):c.1303C>T (p.Gln435Ter)

HGVS:

• NC_000012.12:g.52488449G>A
• NG_008298.1:g.9949C>T
• NM_005554.4:c.1303C>TMANE SELECT
• NP_005545.1:p.Gln435Ter
• LRG_1294t1:c.1303C>T
• LRG_1294:g.9949C>T
• LRG_1294p1:p.Gln435Ter
• NC_000012.11:g.52882233G>A
• NM_005554.3:c.1303C>T

This HGVS expression did not pass validation

Protein change:

Q435*

Links:

dbSNP: rs267607467

NCBI 1000 Genomes Browser:

rs267607467

Molecular consequence:

• NM_005554.4:c.1303C>T - nonsense - [Sequence Ontology: SO:0001587]