ClinVar

NM_000021.4(PSEN1):c.244G>C (p.Val82Leu)

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 73170953 (on Assembly GRCh38)
• Chr14: 73637661 (on Assembly GRCh37)

Preferred name:

NM_000021.4(PSEN1):c.244G>C (p.Val82Leu)

HGVS:

• NC_000014.9:g.73170953G>C
• NG_007386.2:g.39483G>C
• NM_000021.4:c.244G>CMANE SELECT
• NM_007318.3:c.232G>C
• NP_000012.1:p.Val82Leu
• NP_015557.2:p.Val78Leu
• LRG_224t1:c.244G>C
• LRG_224:g.39483G>C
• LRG_224p1:p.Val82Leu
• NC_000014.8:g.73637661G>C
• P49768:p.Val82Leu

This HGVS expression did not pass validation

Protein change:

V78L

Links:

UniProtKB: P49768#VAR_006414; dbSNP: rs63749967

NCBI 1000 Genomes Browser:

rs63749967

Molecular consequence:

• NM_000021.4:c.244G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007318.3:c.232G>C - missense variant - [Sequence Ontology: SO:0001583]