ClinVar

NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74364219 (on Assembly GRCh38)
• Chr8: 75276454 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.929G>A (p.Arg310Gln)

HGVS:

• NC_000008.11:g.74364219G>A
• NG_008787.3:g.48090G>A
• NM_001040875.4:c.725G>A
• NM_001362929.2:c.602G>A
• NM_001362930.2:c.755G>A
• NM_001362931.2:c.694+1166G>A
• NM_001362932.2:c.602G>A
• NM_018972.4:c.929G>AMANE SELECT
• NP_001035808.1:p.Arg242Gln
• NP_001349858.1:p.Arg201Gln
• NP_001349859.1:p.Arg252Gln
• NP_001349861.1:p.Arg201Gln
• NP_061845.2:p.Arg310Gln
• LRG_244t1:c.929G>A
• LRG_244:g.48090G>A
• NC_000008.10:g.75276454G>A
• NM_018972.2:c.929G>A
• p.Arg310Gln

This HGVS expression did not pass validation

Protein change:

R201Q

Links:

dbSNP: rs1323153568

NCBI 1000 Genomes Browser:

rs1323153568

Molecular consequence:

• NM_001362931.2:c.694+1166G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040875.4:c.725G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362930.2:c.755G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.602G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.929G>A - missense variant - [Sequence Ontology: SO:0001583]