ClinVar

NM_024426.6(WT1):c.343C>T (p.Pro115Ser)

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: 32435018 (on Assembly GRCh38)
• Chr11: 32456564 (on Assembly GRCh37)

Preferred name:

NM_024426.6(WT1):c.343C>T (p.Pro115Ser)

HGVS:

• NC_000011.10:g.32435018G>A
• NG_009272.1:g.5524C>T
• NG_050766.1:g.4271G>A
• NM_000378.6:c.343C>T
• NM_024424.5:c.343C>T
• NM_024426.6:c.343C>TMANE SELECT
• NP_000369.4:p.Pro115Ser
• NP_077742.3:p.Pro115Ser
• NP_077744.4:p.Pro115Ser
• LRG_525:g.5524C>T
• NC_000011.9:g.32456564G>A
• NM_024426.4:c.328C>T
• NR_160306.1:n.522C>T

This HGVS expression did not pass validation

Protein change:

P115S

Links:

dbSNP: rs916583720

NCBI 1000 Genomes Browser:

rs916583720

Molecular consequence:

• NM_000378.6:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024424.5:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_024426.6:c.343C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_160306.1:n.522C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]