ClinVar

NM_001134673.4(NFIA):c.617C>T (p.Pro206Leu)

Gene:

NFIA:nuclear factor I A [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

• Chr1: 61277577 (on Assembly GRCh38)
• Chr1: 61743249 (on Assembly GRCh37)

Preferred name:

NM_001134673.4(NFIA):c.617C>T (p.Pro206Leu)

HGVS:

• NC_000001.11:g.61277577C>T
• NG_011787.2:g.205304C>T
• NM_001134673.4:c.617C>TMANE SELECT
• NM_001145511.2:c.593C>T
• NM_001145512.2:c.752C>T
• NM_005595.5:c.617C>T
• NP_001128145.1:p.Pro206Leu
• NP_001138983.1:p.Pro198Leu
• NP_001138984.1:p.Pro251Leu
• NP_005586.1:p.Pro206Leu
• NC_000001.10:g.61743249C>T
• NM_005595.4:c.617C>T

This HGVS expression did not pass validation

Protein change:

P198L

Molecular consequence:

• NM_001134673.4:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145511.2:c.593C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145512.2:c.752C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005595.5:c.617C>T - missense variant - [Sequence Ontology: SO:0001583]