ClinVar

NM_001135254.2(PAX7):c.229C>T (p.Arg77Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.13

Genomic location:

• Chr1: 18634446 (on Assembly GRCh38)
• Chr1: 18960940 (on Assembly GRCh37)

Preferred name:

NM_001135254.2(PAX7):c.229C>T (p.Arg77Cys)

HGVS:

• NC_000001.11:g.18634446C>T
• NG_023262.1:g.8441C>T
• NM_001135254.2:c.229C>TMANE SELECT
• NM_002584.3:c.229C>T
• NM_013945.3:c.229C>T
• NP_001128726.1:p.Arg77Cys
• NP_002575.1:p.Arg77Cys
• NP_039236.1:p.Arg77Cys
• NC_000001.10:g.18960940C>T
• NM_002584.2:c.229C>T

This HGVS expression did not pass validation

Protein change:

R77C

Molecular consequence:

• NM_001135254.2:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_002584.3:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_013945.3:c.229C>T - missense variant - [Sequence Ontology: SO:0001583]