ClinVar

NM_005609.4(PYGM):c.1366G>A (p.Val456Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64753556 (on Assembly GRCh38)
• Chr11: 64521028 (on Assembly GRCh37)

Preferred name:

NM_005609.4(PYGM):c.1366G>A (p.Val456Met)

HGVS:

• NC_000011.10:g.64753556C>T
• NG_013018.1:g.12160G>A
• NM_001164716.1:c.1102G>A
• NM_005609.4:c.1366G>AMANE SELECT
• NP_001158188.1:p.Val368Met
• NP_005600.1:p.Val456Met
• NP_005600.1:p.Val456Met
• NC_000011.9:g.64521028C>T
• NM_005609.2:c.1366G>A

This HGVS expression did not pass validation

Protein change:

V368M

Links:

dbSNP: rs398124208

NCBI 1000 Genomes Browser:

rs398124208

Molecular consequence:

• NM_001164716.1:c.1102G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005609.4:c.1366G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1