ClinVar

NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74364107 (on Assembly GRCh38)
• Chr8: 75276342 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.817C>G (p.Arg273Gly)

HGVS:

• NC_000008.11:g.74364107C>G
• NG_008787.3:g.47978C>G
• NM_001040875.4:c.613C>G
• NM_001362929.2:c.490C>G
• NM_001362930.2:c.643C>G
• NM_001362931.2:c.694+1054C>G
• NM_001362932.2:c.490C>G
• NM_018972.4:c.817C>GMANE SELECT
• NP_001035808.1:p.Arg205Gly
• NP_001349858.1:p.Arg164Gly
• NP_001349859.1:p.Arg215Gly
• NP_001349861.1:p.Arg164Gly
• NP_061845.2:p.Arg273Gly
• LRG_244t1:c.817C>G
• LRG_244:g.47978C>G
• NC_000008.10:g.75276342C>G
• NM_018972.2:c.817C>G

This HGVS expression did not pass validation

Protein change:

R164G

Links:

dbSNP: rs150989205

NCBI 1000 Genomes Browser:

rs150989205

Molecular consequence:

• NM_001362931.2:c.694+1054C>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040875.4:c.613C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.490C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362930.2:c.643C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.490C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.817C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1