ClinVar

NM_001079668.3(NKX2-1):c.*184_*186C[4]ACCC[1]

Genes:

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

Variant type:

Insertion

Cytogenetic location:

14q13.3

Genomic location:

• Chr14: 36517091 - 36517092 (on Assembly GRCh38)
• Chr14: 36986296 - 36986297 (on Assembly GRCh37)

Preferred name:

NM_001079668.3(NKX2-1):c.*184_*186C[4]ACCC[1]

HGVS:

• NC_000014.9:g.36517094_36517095insTGGGG
• NG_013365.1:g.8132_8134C[4]ACCC[1]
• NM_001079668.3:c.*184_*186C[4]ACCC[1]MANE SELECT
• NM_003317.4:c.*184_*186C[4]ACCC[1]
• NC_000014.8:g.36986299_36986300insTGGGG

This HGVS expression did not pass validation

Molecular consequence:

• NM_001079668.3:c.*184_*186C[4]ACCC[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_003317.4:c.*184_*186C[4]ACCC[1] - 3 prime UTR variant - [Sequence Ontology: SO:0001624]

Observations:

2