ClinVar

NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)

Genes:

LOC129997381:ATAC-STARR-seq lymphoblastoid silent region 17642 [Gene]
EPM2A-DT:EPM2A divergent transcript [Gene - HGNC]
EPM2A:EPM2A glucan phosphatase, laforin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.3

Genomic location:

• Chr6: 145735351 (on Assembly GRCh38)
• Chr6: 146056487 (on Assembly GRCh37)

Preferred name:

NM_005670.4(EPM2A):c.148G>A (p.Gly50Arg)

Other names:

p.G50R:GGG>AGG

HGVS:

• NC_000006.12:g.145735351C>T
• NG_012832.2:g.5505G>A
• NM_001018041.2:c.148G>A
• NM_001360057.2:c.148G>A
• NM_001360064.2:c.-114+557G>A
• NM_001360071.2:c.-522G>A
• NM_001368129.2:c.-476G>A
• NM_001368130.1:c.148G>A
• NM_001368131.1:c.-220G>A
• NM_005670.4:c.148G>AMANE SELECT
• NP_001018051.1:p.Gly50Arg
• NP_001346986.1:p.Gly50Arg
• NP_001355059.1:p.Gly50Arg
• NP_005661.1:p.Gly50Arg
• NC_000006.11:g.146056487C>T
• NG_012832.1:g.5505G>A
• NM_005670.3:c.148G>A
• p.Gly50Arg

This HGVS expression did not pass validation

Protein change:

G50R

Links:

dbSNP: rs753397854

NCBI 1000 Genomes Browser:

rs753397854

Molecular consequence:

• NM_001360071.2:c.-522G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001368129.2:c.-476G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001368131.1:c.-220G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001360064.2:c.-114+557G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018041.2:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360057.2:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368130.1:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005670.4:c.148G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1