ClinVar

NM_031892.3(SH3KBP1):c.1258A>G (p.Arg420Gly)

Gene:

SH3KBP1:SH3 domain containing kinase binding protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.12

Genomic location:

• ChrX: 19588683 (on Assembly GRCh38)
• ChrX: 19606801 (on Assembly GRCh37)

Preferred name:

NM_031892.3(SH3KBP1):c.1258A>G (p.Arg420Gly)

HGVS:

• NC_000023.11:g.19588683T>C
• NG_021367.1:g.303944A>G
• NM_001024666.3:c.1147A>G
• NM_001184960.2:c.544A>G
• NM_001353890.2:c.1258A>G
• NM_001353891.2:c.1333A>G
• NM_001353892.2:c.1333A>G
• NM_001353893.2:c.1156A>G
• NM_001353894.2:c.1156A>G
• NM_001353895.2:c.1213A>G
• NM_001353897.2:c.544A>G
• NM_031892.3:c.1258A>GMANE SELECT
• NP_001019837.1:p.Arg383Gly
• NP_001171889.1:p.Arg182Gly
• NP_001340819.1:p.Arg420Gly
• NP_001340820.1:p.Arg445Gly
• NP_001340821.1:p.Arg445Gly
• NP_001340822.1:p.Arg386Gly
• NP_001340823.1:p.Arg386Gly
• NP_001340824.1:p.Arg405Gly
• NP_001340826.1:p.Arg182Gly
• NP_114098.1:p.Arg420Gly
• NC_000023.10:g.19606801T>C
• NM_031892.2:c.1258A>G

This HGVS expression did not pass validation

Protein change:

R182G

Links:

dbSNP: rs483352756

NCBI 1000 Genomes Browser:

rs483352756

Molecular consequence:

• NM_001024666.3:c.1147A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001184960.2:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353890.2:c.1258A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353891.2:c.1333A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353892.2:c.1333A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353893.2:c.1156A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353894.2:c.1156A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353895.2:c.1213A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353897.2:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_031892.3:c.1258A>G - missense variant - [Sequence Ontology: SO:0001583]