ClinVar

NM_018972.4(GDAP1):c.706C>A (p.Gln236Lys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74363996 (on Assembly GRCh38)
• Chr8: 75276231 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.706C>A (p.Gln236Lys)

HGVS:

• NC_000008.11:g.74363996C>A
• NG_008787.3:g.47867C>A
• NM_001040875.4:c.502C>A
• NM_001362929.2:c.379C>A
• NM_001362930.2:c.532C>A
• NM_001362931.2:c.694+943C>A
• NM_001362932.2:c.379C>A
• NM_018972.4:c.706C>AMANE SELECT
• NP_001035808.1:p.Gln168Lys
• NP_001349858.1:p.Gln127Lys
• NP_001349859.1:p.Gln178Lys
• NP_001349861.1:p.Gln127Lys
• NP_061845.2:p.Gln236Lys
• LRG_244:g.47867C>A
• NC_000008.10:g.75276231C>A
• NM_001040875.2:c.502C>A

This HGVS expression did not pass validation

Protein change:

Q127K

Links:

dbSNP: rs760573105

NCBI 1000 Genomes Browser:

rs760573105

Molecular consequence:

• NM_001362931.2:c.694+943C>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040875.4:c.502C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.379C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362930.2:c.532C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.379C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.706C>A - missense variant - [Sequence Ontology: SO:0001583]