ClinVar

NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala)

Genes:

FOXE3:forkhead box E3 [Gene - OMIM - HGNC]
LINC01389:long intergenic non-protein coding RNA 1389 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p33

Genomic location:

• Chr1: 47416443 (on Assembly GRCh38)
• Chr1: 47882115 (on Assembly GRCh37)

Preferred name:

NM_012186.3(FOXE3):c.128A>C (p.Glu43Ala)

HGVS:

• NC_000001.11:g.47416443A>C
• NG_016192.1:g.5372A>C
• NM_012186.3:c.128A>CMANE SELECT
• NP_036318.1:p.Glu43Ala
• NC_000001.10:g.47882115A>C

This HGVS expression did not pass validation

Protein change:

E43A

Links:

dbSNP: rs886042841

NCBI 1000 Genomes Browser:

rs886042841

Molecular consequence:

• NM_012186.3:c.128A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1