ClinVar

NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)

Genes:

NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q13.3

Genomic location:

• Chr14: 36519198 (on Assembly GRCh38)
• Chr14: 36988403 (on Assembly GRCh37)

Preferred name:

NM_001079668.3(NKX2-1):c.250C>T (p.Gln84Ter)

HGVS:

• NC_000014.9:g.36519198G>A
• NG_013365.1:g.6028C>T
• NM_001079668.3:c.250C>TMANE SELECT
• NM_003317.4:c.160C>T
• NP_001073136.1:p.Gln84Ter
• NP_003308.1:p.Gln54Ter
• NC_000014.8:g.36988403G>A

This HGVS expression did not pass validation

Protein change:

Q54*

Molecular consequence:

• NM_001079668.3:c.250C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_003317.4:c.160C>T - nonsense - [Sequence Ontology: SO:0001587]

Observations:

1