ClinVar

NM_024426.6(WT1):c.1322A>T (p.Asp441Val)

Gene:

WT1:WT1 transcription factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 32392698 (on Assembly GRCh38)
• Chr11: 32414244 (on Assembly GRCh37)

Preferred name:

NM_024426.6(WT1):c.1322A>T (p.Asp441Val)

HGVS:

• NC_000011.10:g.32392698T>A
• NG_009272.1:g.47844A>T
• NM_000378.6:c.1271A>T
• NM_001198551.2:c.671A>T
• NM_001198552.2:c.620A>T
• NM_001367854.1:c.134A>T
• NM_001407044.1:c.1316A>T
• NM_001407045.1:c.1271A>T
• NM_001407046.1:c.1322A>T
• NM_001407047.1:c.1199A>T
• NM_001407049.1:c.1271A>T
• NM_001407050.1:c.1148A>T
• NM_001407051.1:c.560A>T
• NM_024424.5:c.1322A>T
• NM_024425.2:c.1256A>T
• NM_024426.6:c.1322A>TMANE SELECT
• NP_000369.4:p.Asp424Val
• NP_001185480.1:p.Asp224Val
• NP_001185480.1:p.Asp224Val
• NP_001185481.1:p.Asp207Val
• NP_001354783.1:p.Asp45Val
• NP_001393973.1:p.Asp439Val
• NP_001393974.1:p.Asp424Val
• NP_001393975.1:p.Asp441Val
• NP_001393976.1:p.Asp400Val
• NP_001393978.1:p.Asp424Val
• NP_001393979.1:p.Asp383Val
• NP_001393980.1:p.Asp187Val
• NP_077742.3:p.Asp441Val
• NP_077743.2:p.Asp419Val
• NP_077744.3:p.Asp436Val
• NP_077744.4:p.Asp441Val
• LRG_525t1:c.1307A>T
• LRG_525t2:c.671A>T
• LRG_525:g.47844A>T
• LRG_525p1:p.Asp436Val
• LRG_525p2:p.Asp224Val
• NC_000011.9:g.32414244T>A
• NM_001198551.1:c.671A>T
• NM_024426.3:c.1307A>T
• NR_160306.1:n.1654A>T
• NR_176266.1:n.1603A>T

This HGVS expression did not pass validation

Protein change:

D187V

Molecular consequence:

• NM_000378.6:c.1271A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198551.2:c.671A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198552.2:c.620A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367854.1:c.134A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407044.1:c.1316A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407045.1:c.1271A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407046.1:c.1322A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407047.1:c.1199A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407049.1:c.1271A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407050.1:c.1148A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407051.1:c.560A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024424.5:c.1322A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024425.2:c.1256A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024426.6:c.1322A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_160306.1:n.1654A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1