ClinVar

NM_018972.4(GDAP1):c.332C>A (p.Pro111His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74360158 (on Assembly GRCh38)
• Chr8: 75272393 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.332C>A (p.Pro111His)

HGVS:

• NC_000008.11:g.74360158C>A
• NG_008787.3:g.44029C>A
• NM_001040875.4:c.128C>A
• NM_001362929.2:c.5C>A
• NM_001362930.2:c.311-1726C>A
• NM_001362931.2:c.332C>A
• NM_001362932.2:c.5C>A
• NM_018972.4:c.332C>AMANE SELECT
• NP_001035808.1:p.Pro43His
• NP_001349858.1:p.Pro2His
• NP_001349860.1:p.Pro111His
• NP_001349861.1:p.Pro2His
• NP_061845.2:p.Pro111His
• LRG_244t1:c.332C>A
• LRG_244:g.44029C>A
• NC_000008.10:g.75272393C>A
• NM_018972.2:c.332C>A

This HGVS expression did not pass validation

Protein change:

P111H

Links:

dbSNP: rs1586802999

NCBI 1000 Genomes Browser:

rs1586802999

Molecular consequence:

• NM_001362930.2:c.311-1726C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040875.4:c.128C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.5C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362931.2:c.332C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.5C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.332C>A - missense variant - [Sequence Ontology: SO:0001583]