ClinVar

NM_024426.6(WT1):c.1124G>A (p.Arg375His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 32396397 (on Assembly GRCh38)
• Chr11: 32417943 (on Assembly GRCh37)

Preferred name:

NM_024426.6(WT1):c.1124G>A (p.Arg375His)

HGVS:

• NC_000011.10:g.32396397C>T
• NG_009272.1:g.44145G>A
• NM_000378.6:c.1073G>A
• NM_001198551.2:c.473G>A
• NM_001198552.2:c.422G>A
• NM_001367854.1:c.-65G>A
• NM_001407044.1:c.1118G>A
• NM_001407045.1:c.1073G>A
• NM_001407046.1:c.1124G>A
• NM_001407047.1:c.1001G>A
• NM_001407048.1:c.1073G>A
• NM_001407049.1:c.1073G>A
• NM_001407050.1:c.950G>A
• NM_001407051.1:c.362G>A
• NM_024424.5:c.1124G>A
• NM_024425.2:c.1058G>A
• NM_024426.6:c.1124G>AMANE SELECT
• NP_000369.4:p.Arg358His
• NP_001185480.1:p.Arg158His
• NP_001185480.1:p.Arg158His
• NP_001185481.1:p.Arg141His
• NP_001393973.1:p.Arg373His
• NP_001393974.1:p.Arg358His
• NP_001393975.1:p.Arg375His
• NP_001393976.1:p.Arg334His
• NP_001393977.1:p.Arg358His
• NP_001393978.1:p.Arg358His
• NP_001393979.1:p.Arg317His
• NP_001393980.1:p.Arg121His
• NP_077742.3:p.Arg375His
• NP_077743.2:p.Arg353His
• NP_077744.3:p.Arg370His
• NP_077744.4:p.Arg375His
• LRG_525t1:c.1109G>A
• LRG_525t2:c.473G>A
• LRG_525:g.44145G>A
• LRG_525p1:p.Arg370His
• LRG_525p2:p.Arg158His
• NC_000011.9:g.32417943C>T
• NM_001198551.1:c.473G>A
• NM_024426.3:c.1109G>A
• NM_024426.4:c.1109G>A
• NR_160306.1:n.1456G>A
• NR_176266.1:n.1405G>A

This HGVS expression did not pass validation

Protein change:

R121H

Links:

dbSNP: rs554416372

NCBI 1000 Genomes Browser:

rs554416372

Molecular consequence:

• NM_001367854.1:c.-65G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000378.6:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198551.2:c.473G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198552.2:c.422G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407044.1:c.1118G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407045.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407046.1:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407047.1:c.1001G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407048.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407049.1:c.1073G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407050.1:c.950G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407051.1:c.362G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024424.5:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024425.2:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024426.6:c.1124G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_160306.1:n.1456G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]