ClinVar

NM_024426.6(WT1):c.29C>A (p.Ala10Asp)

Genes:

WT1:WT1 transcription factor [Gene - OMIM - HGNC]
LOC107982234:WT1/WT1-AS bi-directional promoter region [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 32435332 (on Assembly GRCh38)
• Chr11: 32456878 (on Assembly GRCh37)

Preferred name:

NM_024426.6(WT1):c.29C>A (p.Ala10Asp)

HGVS:

• NC_000011.10:g.32435332G>T
• NG_009272.1:g.5210C>A
• NG_050766.1:g.4585G>T
• NM_000378.6:c.29C>A
• NM_024424.5:c.29C>A
• NM_024426.6:c.29C>AMANE SELECT
• NP_000369.4:p.Ala10Asp
• NP_077742.3:p.Ala10Asp
• NP_077744.4:p.Ala10Asp
• LRG_525t1:c.14C>A
• LRG_525:g.5210C>A
• NC_000011.9:g.32456878G>T
• NM_024426.3:c.14C>A
• NR_160306.1:n.208C>A

This HGVS expression did not pass validation

Protein change:

A10D

Links:

dbSNP: rs997104313

NCBI 1000 Genomes Browser:

rs997104313

Molecular consequence:

• NM_000378.6:c.29C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024424.5:c.29C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024426.6:c.29C>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_160306.1:n.208C>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]