ClinVar

NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74360272 (on Assembly GRCh38)
• Chr8: 75272507 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.446A>G (p.Asp149Gly)

HGVS:

• NC_000008.11:g.74360272A>G
• NG_008787.3:g.44143A>G
• NM_001040875.4:c.242A>G
• NM_001362929.2:c.119A>G
• NM_001362930.2:c.311-1612A>G
• NM_001362931.2:c.446A>G
• NM_001362932.2:c.119A>G
• NM_018972.4:c.446A>GMANE SELECT
• NP_001035808.1:p.Asp81Gly
• NP_001349858.1:p.Asp40Gly
• NP_001349860.1:p.Asp149Gly
• NP_001349861.1:p.Asp40Gly
• NP_061845.2:p.Asp149Gly
• LRG_244:g.44143A>G
• NC_000008.10:g.75272507A>G

This HGVS expression did not pass validation

Protein change:

D149G

Links:

dbSNP: rs1586803296

NCBI 1000 Genomes Browser:

rs1586803296

Molecular consequence:

• NM_001362930.2:c.311-1612A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040875.4:c.242A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.119A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362931.2:c.446A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.119A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.446A>G - missense variant - [Sequence Ontology: SO:0001583]