ClinVar

NM_000278.5(PAX2):c.113G>A (p.Arg38Lys)

Gene:

PAX2:paired box 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q24.31

Genomic location:

• Chr10: 100749815 (on Assembly GRCh38)
• Chr10: 102509572 (on Assembly GRCh37)

Preferred name:

NM_000278.5(PAX2):c.113G>A (p.Arg38Lys)

HGVS:

• NC_000010.11:g.100749815G>A
• NG_008680.2:g.19107G>A
• NM_000278.5:c.113G>AMANE SELECT
• NM_001304569.2:c.206G>A
• NM_003987.5:c.113G>A
• NM_003988.5:c.113G>A
• NM_003989.5:c.113G>A
• NM_003990.5:c.113G>A
• NP_000269.3:p.Arg38Lys
• NP_001291498.1:p.Arg69Lys
• NP_003978.3:p.Arg38Lys
• NP_003979.2:p.Arg38Lys
• NP_003980.3:p.Arg38Lys
• NP_003981.3:p.Arg38Lys
• NC_000010.10:g.102509572G>A

This HGVS expression did not pass validation

Protein change:

R38K

Links:

dbSNP: rs1564706226

NCBI 1000 Genomes Browser:

rs1564706226

Molecular consequence:

• NM_000278.5:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001304569.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003987.5:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003988.5:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003989.5:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_003990.5:c.113G>A - missense variant - [Sequence Ontology: SO:0001583]