ClinVar

NM_024426.6(WT1):c.1216A>G (p.Arg406Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p13

Genomic location:

• Chr11: 32396305 (on Assembly GRCh38)
• Chr11: 32417851 (on Assembly GRCh37)

Preferred name:

NM_024426.6(WT1):c.1216A>G (p.Arg406Gly)

HGVS:

• NC_000011.10:g.32396305T>C
• NG_009272.1:g.44237A>G
• NM_000378.6:c.1165A>G
• NM_001198551.2:c.565A>G
• NM_001198552.2:c.514A>G
• NM_001367854.1:c.28A>G
• NM_001407044.1:c.1210A>G
• NM_001407045.1:c.1165A>G
• NM_001407046.1:c.1216A>G
• NM_001407047.1:c.1093A>G
• NM_001407048.1:c.1165A>G
• NM_001407049.1:c.1165A>G
• NM_001407050.1:c.1042A>G
• NM_001407051.1:c.454A>G
• NM_024424.5:c.1216A>G
• NM_024425.2:c.1150A>G
• NM_024426.6:c.1216A>GMANE SELECT
• NP_000369.4:p.Arg389Gly
• NP_001185480.1:p.Arg189Gly
• NP_001185480.1:p.Arg189Gly
• NP_001185481.1:p.Arg172Gly
• NP_001354783.1:p.Arg10Gly
• NP_001393973.1:p.Arg404Gly
• NP_001393974.1:p.Arg389Gly
• NP_001393975.1:p.Arg406Gly
• NP_001393976.1:p.Arg365Gly
• NP_001393977.1:p.Arg389Gly
• NP_001393978.1:p.Arg389Gly
• NP_001393979.1:p.Arg348Gly
• NP_001393980.1:p.Arg152Gly
• NP_077742.3:p.Arg406Gly
• NP_077743.2:p.Arg384Gly
• NP_077744.3:p.Arg401Gly
• NP_077744.4:p.Arg406Gly
• LRG_525t1:c.1201A>G
• LRG_525t2:c.565A>G
• LRG_525:g.44237A>G
• LRG_525p1:p.Arg401Gly
• LRG_525p2:p.Arg189Gly
• NC_000011.9:g.32417851T>C
• NM_001198551.1:c.565A>G
• NM_024426.3:c.1201A>G
• NM_024426.4:c.1201A>G
• NR_160306.1:n.1548A>G
• NR_176266.1:n.1497A>G

This HGVS expression did not pass validation

Protein change:

R10G

Links:

dbSNP: rs1590338690

NCBI 1000 Genomes Browser:

rs1590338690

Molecular consequence:

• NM_000378.6:c.1165A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198551.2:c.565A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001198552.2:c.514A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001367854.1:c.28A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407044.1:c.1210A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407045.1:c.1165A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407046.1:c.1216A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407047.1:c.1093A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407048.1:c.1165A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407049.1:c.1165A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407050.1:c.1042A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001407051.1:c.454A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024424.5:c.1216A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024425.2:c.1150A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_024426.6:c.1216A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_160306.1:n.1548A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]