ClinVar

NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p31.3

Genomic location:

• Chr1: 61088482 (on Assembly GRCh38)
• Chr1: 61554154 (on Assembly GRCh37)

Preferred name:

NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)

HGVS:

• NC_000001.11:g.61088482C>T
• NG_011787.2:g.16209C>T
• NM_001134673.4:c.361C>TMANE SELECT
• NM_001145511.2:c.337C>T
• NM_001145512.1:c.496C>T
• NM_001145512.2:c.496C>T
• NM_005595.5:c.361C>T
• NP_001128145.1:p.Arg121Cys
• NP_001138983.1:p.Arg113Cys
• NP_001138984.1:p.Arg166Cys
• NP_005586.1:p.Arg121Cys
• NC_000001.10:g.61554154C>T
• NG_011787.1:g.16209C>T
• NM_001134673.3:c.361C>T
• NM_001134673.4:c.361C>T
• NM_005595.4:c.361C>T
• NM_005595.5:c.361C>T

This HGVS expression did not pass validation

Protein change:

R113C

Links:

dbSNP: rs886039429

NCBI 1000 Genomes Browser:

rs886039429

Molecular consequence:

• NM_001134673.4:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145511.2:c.337C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001145512.2:c.496C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005595.5:c.361C>T - missense variant - [Sequence Ontology: SO:0001583]