ClinVar

NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln)

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: 36517867 (on Assembly GRCh38)
• Chr14: 36987072 (on Assembly GRCh37)

Preferred name:

NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln)

HGVS:

• NC_000014.9:g.36517867A>T
• NG_013365.1:g.7359T>A
• NM_001079668.2:c.617T>A
• NM_001079668.3:c.617T>AMANE SELECT
• NM_003317.4:c.527T>A
• NP_001073136.1:p.Leu206Gln
• NP_003308.1:p.Leu176Gln
• NC_000014.8:g.36987072A>T
• NM_003317.3:c.527T>A

This HGVS expression did not pass validation

Protein change:

L176Q

Links:

dbSNP: rs1555349221

NCBI 1000 Genomes Browser:

rs1555349221

Molecular consequence:

• NM_001079668.3:c.617T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003317.4:c.527T>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1