ClinVar

NM_018972.4(GDAP1):c.368A>G (p.His123Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74360194 (on Assembly GRCh38)
• Chr8: 75272429 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.368A>G (p.His123Arg)

HGVS:

• NC_000008.11:g.74360194A>G
• NG_008787.3:g.44065A>G
• NM_001040875.4:c.164A>G
• NM_001362929.2:c.41A>G
• NM_001362930.2:c.311-1690A>G
• NM_001362931.2:c.368A>G
• NM_001362932.2:c.41A>G
• NM_018972.4:c.368A>GMANE SELECT
• NP_001035808.1:p.His55Arg
• NP_001349858.1:p.His14Arg
• NP_001349860.1:p.His123Arg
• NP_001349861.1:p.His14Arg
• NP_061845.2:p.His123Arg
• LRG_244t1:c.368A>G
• LRG_244:g.44065A>G
• NC_000008.10:g.75272429A>G
• NM_001040875.2:c.164A>G
• NM_018972.2:c.368A>G

This HGVS expression did not pass validation

Protein change:

H123R; HIS123ARG

Links:

OMIM: 606598.0018; dbSNP: rs397515442

NCBI 1000 Genomes Browser:

rs397515442

Molecular consequence:

• NM_001362930.2:c.311-1690A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001040875.4:c.164A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.41A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362931.2:c.368A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.41A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.368A>G - missense variant - [Sequence Ontology: SO:0001583]