ClinVar

NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)

Gene:

KRT14:keratin 14 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 41586816 (on Assembly GRCh38)
• Chr17: 39743068 (on Assembly GRCh37)

Preferred name:

NM_000526.5(KRT14):c.19C>T (p.Gln7Ter)

HGVS:

• NC_000017.11:g.41586816G>A
• NG_008624.1:g.5080C>T
• NM_000526.5:c.19C>TMANE SELECT
• NP_000517.3:p.Gln7Ter
• NC_000017.10:g.39743068G>A
• NM_000526.4:c.19C>T

This HGVS expression did not pass validation

Protein change:

Q7*; GLN7TER

Links:

OMIM: 148066.0019; dbSNP: rs267607391

NCBI 1000 Genomes Browser:

rs267607391

Molecular consequence:

• NM_000526.5:c.19C>T - nonsense - [Sequence Ontology: SO:0001587]