ClinVar

NM_012186.3(FOXE3):c.61G>T (p.Ala21Ser)

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: 47416376 (on Assembly GRCh38)
• Chr1: 47882048 (on Assembly GRCh37)

Preferred name:

NM_012186.3(FOXE3):c.61G>T (p.Ala21Ser)

HGVS:

• NC_000001.11:g.47416376G>T
• NG_016192.1:g.5305G>T
• NM_012186.3:c.61G>TMANE SELECT
• NP_036318.1:p.Ala21Ser
• NC_000001.10:g.47882048G>T

This HGVS expression did not pass validation

Protein change:

A21S

Links:

dbSNP: rs886379083

NCBI 1000 Genomes Browser:

rs886379083

Molecular consequence:

• NM_012186.3:c.61G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1