ClinVar

NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74363051 (on Assembly GRCh38)
• Chr8: 75275286 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.692C>T (p.Pro231Leu)

HGVS:

• NC_000008.11:g.74363051C>T
• NG_008787.3:g.46922C>T
• NM_001040875.4:c.488C>T
• NM_001362929.2:c.365C>T
• NM_001362930.2:c.518C>T
• NM_001362931.2:c.692C>T
• NM_001362932.2:c.365C>T
• NM_018972.4:c.692C>TMANE SELECT
• NP_001035808.1:p.Pro163Leu
• NP_001349858.1:p.Pro122Leu
• NP_001349859.1:p.Pro173Leu
• NP_001349860.1:p.Pro231Leu
• NP_001349861.1:p.Pro122Leu
• NP_061845.2:p.Pro231Leu
• LRG_244t1:c.692C>T
• LRG_244:g.46922C>T
• NC_000008.10:g.75275286C>T
• NM_001040875.2:c.488C>T
• NM_018972.2:c.692C>T

This HGVS expression did not pass validation

Protein change:

P122L; PRO231LEU

Links:

OMIM: 606598.0013; dbSNP: rs121908114

NCBI 1000 Genomes Browser:

rs121908114

Molecular consequence:

• NM_001040875.4:c.488C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362929.2:c.365C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362930.2:c.518C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362931.2:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362932.2:c.365C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.692C>T - missense variant - [Sequence Ontology: SO:0001583]