ClinVar

NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn)

Genes:

LOC130000622:ATAC-STARR-seq lymphoblastoid active region 27542 [Gene]
GDAP1:ganglioside induced differentiation associated protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.11

Genomic location:

• Chr8: 74350578 (on Assembly GRCh38)
• Chr8: 75262813 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.117G>C (p.Lys39Asn)

Other names:

p.Lys39Asn

HGVS:

• NC_000008.11:g.74350578G>C
• NG_008787.3:g.34449G>C
• NM_001040875.4:c.-64+106G>C
• NM_001362929.2:c.-66G>C
• NM_001362930.2:c.117G>C
• NM_001362931.2:c.117G>C
• NM_001362932.2:c.-18G>C
• NM_018972.4:c.117G>CMANE SELECT
• NP_001349859.1:p.Lys39Asn
• NP_001349860.1:p.Lys39Asn
• NP_061845.2:p.Lys39Asn
• LRG_244t1:c.117G>C
• LRG_244:g.34449G>C
• NC_000008.10:g.75262813G>C
• NM_018972.2:c.117G>C

This HGVS expression did not pass validation

Protein change:

K39N

Links:

dbSNP: rs1586794314

NCBI 1000 Genomes Browser:

rs1586794314

Molecular consequence:

• NM_001362929.2:c.-66G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362932.2:c.-18G>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001040875.4:c.-64+106G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001362930.2:c.117G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362931.2:c.117G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.117G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1