ClinVar

NM_005670.4(EPM2A):c.512G>A (p.Arg171His)

Gene:

EPM2A:EPM2A glucan phosphatase, laforin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.3

Genomic location:

• Chr6: 145635451 (on Assembly GRCh38)
• Chr6: 145956587 (on Assembly GRCh37)

Preferred name:

NM_005670.4(EPM2A):c.512G>A (p.Arg171His)

HGVS:

• NC_000006.12:g.145635451C>T
• NG_012832.2:g.105405G>A
• NM_001018041.2:c.512G>A
• NM_001360057.2:c.477-7758G>A
• NM_001360064.2:c.98G>A
• NM_001360071.2:c.98G>A
• NM_001368129.2:c.50G>A
• NM_001368130.1:c.512G>A
• NM_001368131.1:c.98G>A
• NM_001368132.1:c.50G>A
• NM_005670.4:c.512G>AMANE SELECT
• NP_001018051.1:p.Arg171His
• NP_001346993.1:p.Arg33His
• NP_001347000.1:p.Arg33His
• NP_001355058.1:p.Arg17His
• NP_001355059.1:p.Arg171His
• NP_001355060.1:p.Arg33His
• NP_001355061.1:p.Arg17His
• NP_005661.1:p.Arg171His
• NC_000006.11:g.145956587C>T
• NG_012832.1:g.105405G>A
• NM_005670.3:c.512G>A
• O95278:p.Arg171His

This HGVS expression did not pass validation

Protein change:

R171H; ARG171HIS

Links:

UniProtKB: O95278#VAR_019474; OMIM: 607566.0005; dbSNP: rs137852916

NCBI 1000 Genomes Browser:

rs137852916

Molecular consequence:

• NM_001360057.2:c.477-7758G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018041.2:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360064.2:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360071.2:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368129.2:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368130.1:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368131.1:c.98G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368132.1:c.50G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005670.4:c.512G>A - missense variant - [Sequence Ontology: SO:0001583]