ClinVar

NM_001135254.2(PAX7):c.1234G>A (p.Gly412Ser)

Gene:

PAX7:paired box 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

• Chr1: 18735710 (on Assembly GRCh38)
• Chr1: 19062204 (on Assembly GRCh37)

Preferred name:

NM_001135254.2(PAX7):c.1234G>A (p.Gly412Ser)

HGVS:

• NC_000001.11:g.18735710G>A
• NG_023262.1:g.109705G>A
• NM_001135254.2:c.1234G>AMANE SELECT
• NM_002584.3:c.1234G>A
• NM_013945.3:c.1228G>A
• NP_001128726.1:p.Gly412Ser
• NP_002575.1:p.Gly412Ser
• NP_039236.1:p.Gly410Ser
• NC_000001.10:g.19062204G>A

This HGVS expression did not pass validation

Protein change:

G410S

Molecular consequence:

• NM_001135254.2:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_002584.3:c.1234G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_013945.3:c.1228G>A - missense variant - [Sequence Ontology: SO:0001583]