ClinVar

NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.3

Genomic location:

• Chr6: 145635319 (on Assembly GRCh38)
• Chr6: 145956455 (on Assembly GRCh37)

Preferred name:

NM_005670.4(EPM2A):c.644A>T (p.Asp215Val)

Other names:

p.D215V:GAC>GTC

HGVS:

• NC_000006.12:g.145635319T>A
• NG_012832.2:g.105537A>T
• NM_001018041.2:c.644A>T
• NM_001360057.2:c.477-7626A>T
• NM_001360064.2:c.230A>T
• NM_001360071.2:c.230A>T
• NM_001368129.2:c.182A>T
• NM_001368130.1:c.644A>T
• NM_001368131.1:c.230A>T
• NM_001368132.1:c.182A>T
• NM_005670.4:c.644A>TMANE SELECT
• NP_001018051.1:p.Asp215Val
• NP_001346993.1:p.Asp77Val
• NP_001347000.1:p.Asp77Val
• NP_001355058.1:p.Asp61Val
• NP_001355059.1:p.Asp215Val
• NP_001355060.1:p.Asp77Val
• NP_001355061.1:p.Asp61Val
• NP_005661.1:p.Asp215Val
• NC_000006.11:g.145956455T>A
• NG_012832.1:g.105537A>T
• NM_005670.3:c.644A>T

This HGVS expression did not pass validation

Protein change:

D215V

Links:

dbSNP: rs144565191

NCBI 1000 Genomes Browser:

rs144565191

Molecular consequence:

• NM_001360057.2:c.477-7626A>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001018041.2:c.644A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360064.2:c.230A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001360071.2:c.230A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368129.2:c.182A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368130.1:c.644A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368131.1:c.230A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001368132.1:c.182A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005670.4:c.644A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2