ClinVar

NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)

Gene:

PYGM:glycogen phosphorylase, muscle associated [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64757862 (on Assembly GRCh38)
• Chr11: 64525334 (on Assembly GRCh37)

Preferred name:

NM_005609.4(PYGM):c.577G>T (p.Ala193Ser)

HGVS:

• NC_000011.10:g.64757862C>A
• NG_013018.1:g.7854G>T
• NM_001164716.1:c.313G>T
• NM_005609.4:c.577G>TMANE SELECT
• NP_001158188.1:p.Ala105Ser
• NP_005600.1:p.Ala193Ser
• NP_005600.1:p.Ala193Ser
• NC_000011.9:g.64525334C>A
• NM_005609.2:c.577G>T
• NM_005609.3:c.577G>T

This HGVS expression did not pass validation

Protein change:

A105S

Links:

dbSNP: rs77656150

NCBI 1000 Genomes Browser:

rs77656150

Molecular consequence:

• NM_001164716.1:c.313G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005609.4:c.577G>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2