ClinVar

NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)

Gene:

PAX4:paired box 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q32.1

Genomic location:

• Chr7: 127615029 (on Assembly GRCh38)
• Chr7: 127255083 (on Assembly GRCh37)

Preferred name:

NM_001366110.1(PAX4):c.211G>T (p.Gly71Cys)

Other names:

NM_006193.2:c.187G>T

HGVS:

• NC_000007.14:g.127615029C>A
• NG_012848.1:g.5698G>T
• NM_001366110.1:c.211G>TMANE SELECT
• NM_001366111.1:c.211G>T
• NP_001353039.1:p.Gly71Cys
• NP_001353040.1:p.Gly71Cys
• NC_000007.13:g.127255083C>A

This HGVS expression did not pass validation

Protein change:

G71C

Links:

dbSNP: rs112061448

NCBI 1000 Genomes Browser:

rs112061448

Molecular consequence:

• NM_001366110.1:c.211G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001366111.1:c.211G>T - missense variant - [Sequence Ontology: SO:0001583]