ClinVar

NM_024426.6(WT1):c.512G>T (p.Gly171Val)

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: 32434849 (on Assembly GRCh38)
• Chr11: 32456395 (on Assembly GRCh37)

Preferred name:

NM_024426.6(WT1):c.512G>T (p.Gly171Val)

HGVS:

• NC_000011.10:g.32434849C>A
• NG_009272.1:g.5693G>T
• NG_050766.1:g.4102C>A
• NM_000378.6:c.512G>T
• NM_024424.5:c.512G>T
• NM_024426.6:c.512G>TMANE SELECT
• NP_000369.4:p.Gly171Val
• NP_077742.3:p.Gly171Val
• NP_077744.4:p.Gly171Val
• LRG_525:g.5693G>T
• NC_000011.9:g.32456395C>A
• NM_024426.4:c.497G>T
• NR_160306.1:n.691G>T

This HGVS expression did not pass validation

Protein change:

G171V

Links:

dbSNP: rs1554946480

NCBI 1000 Genomes Browser:

rs1554946480

Molecular consequence:

• NM_000378.6:c.512G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024424.5:c.512G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024426.6:c.512G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_160306.1:n.691G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]