ClinVar

NM_005609.4(PYGM):c.1A>G (p.Met1Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64759898 (on Assembly GRCh38)
• Chr11: 64527370 (on Assembly GRCh37)

Preferred name:

NM_005609.4(PYGM):c.1A>G (p.Met1Val)

HGVS:

• NC_000011.10:g.64759898T>C
• NG_013018.1:g.5818A>G
• NM_001164716.1:c.1A>G
• NM_005609.4:c.1A>GMANE SELECT
• NP_001158188.1:p.Met1Val
• NP_005600.1:p.Met1Val
• NC_000011.9:g.64527370T>C
• NM_005609.2:c.1A>G

This HGVS expression did not pass validation

Protein change:

M1V; MET1VAL

Links:

OMIM: 608455.0012; dbSNP: rs267606993

NCBI 1000 Genomes Browser:

rs267606993

Molecular consequence:

• NM_001164716.1:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_005609.4:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001164716.1:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_005609.4:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]