ClinVar

NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)

Gene:

GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74363037 (on Assembly GRCh38)
• Chr8: 75275272 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.678A>C (p.Arg226Ser)

HGVS:

• NC_000008.11:g.74363037A>C
• NG_008787.3:g.46908A>C
• NM_001040875.4:c.474A>C
• NM_001362929.2:c.351A>C
• NM_001362930.2:c.504A>C
• NM_001362931.2:c.678A>C
• NM_001362932.2:c.351A>C
• NM_018972.4:c.678A>CMANE SELECT
• NP_001035808.1:p.Arg158Ser
• NP_001349858.1:p.Arg117Ser
• NP_001349859.1:p.Arg168Ser
• NP_001349860.1:p.Arg226Ser
• NP_001349861.1:p.Arg117Ser
• NP_061845.2:p.Arg226Ser
• LRG_244t1:c.678A>C
• LRG_244:g.46908A>C
• NC_000008.10:g.75275272A>C
• NM_018972.2:c.678A>C

This HGVS expression did not pass validation

Protein change:

R117S

Links:

dbSNP: rs267606842

NCBI 1000 Genomes Browser:

rs267606842

Molecular consequence:

• NM_001040875.4:c.474A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.351A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362930.2:c.504A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362931.2:c.678A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.351A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.678A>C - missense variant - [Sequence Ontology: SO:0001583]