ClinVar

NM_005670.4(EPM2A):c.620G>A (p.Arg207His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.3

Genomic location:

• Chr6: 145635343 (on Assembly GRCh38)
• Chr6: 145956479 (on Assembly GRCh37)

Preferred name:

NM_005670.4(EPM2A):c.620G>A (p.Arg207His)

Other names:

p.R207H:CGC>CAC

HGVS:

• NC_000006.12:g.145635343C>T
• NG_012832.2:g.105513G>A
• NM_001018041.2:c.620G>A
• NM_001360057.2:c.477-7650G>A
• NM_001360064.2:c.206G>A
• NM_001360071.2:c.206G>A
• NM_001368129.2:c.158G>A
• NM_001368130.1:c.620G>A
• NM_001368131.1:c.206G>A
• NM_001368132.1:c.158G>A
• NM_005670.4:c.620G>AMANE SELECT
• NP_001018051.1:p.Arg207His
• NP_001346993.1:p.Arg69His
• NP_001347000.1:p.Arg69His
• NP_001355058.1:p.Arg53His
• NP_001355059.1:p.Arg207His
• NP_001355060.1:p.Arg69His
• NP_001355061.1:p.Arg53His
• NP_005661.1:p.Arg207His
• NC_000006.11:g.145956479C>T
• NG_012832.1:g.105513G>A
• NM_005670.3:c.620G>A

This HGVS expression did not pass validation

Protein change:

R207H

Links:

dbSNP: rs571938170

NCBI 1000 Genomes Browser:

rs571938170

Molecular consequence:

• NM_001360057.2:c.477-7650G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018041.2:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360064.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360071.2:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368129.2:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368130.1:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368131.1:c.206G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368132.1:c.158G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_005670.4:c.620G>A - missense variant - [Sequence Ontology: SO:0001583]