ClinVar

NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)

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: 74350462 (on Assembly GRCh38)
• Chr8: 75262697 (on Assembly GRCh37)

Preferred name:

NM_018972.4(GDAP1):c.1A>T (p.Met1Leu)

HGVS:

• NC_000008.11:g.74350462A>T
• NG_008787.3:g.34333A>T
• NM_001040875.4:c.-74A>T
• NM_001362929.2:c.-182A>T
• NM_001362930.2:c.1A>T
• NM_001362931.2:c.1A>T
• NM_001362932.2:c.-134A>T
• NM_018972.4:c.1A>TMANE SELECT
• NP_001349859.1:p.Met1Leu
• NP_001349860.1:p.Met1Leu
• NP_061845.2:p.Met1Leu
• LRG_244t1:c.1A>T
• LRG_244:g.34333A>T
• NC_000008.10:g.75262697A>T
• NM_018972.2:c.1A>T

This HGVS expression did not pass validation

Protein change:

M1L

Links:

dbSNP: rs1474390668

NCBI 1000 Genomes Browser:

rs1474390668

Molecular consequence:

• NM_001040875.4:c.-74A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362929.2:c.-182A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362932.2:c.-134A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001362930.2:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001362931.2:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_018972.4:c.1A>T - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001362930.2:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001362931.2:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_018972.4:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]