ClinVar

NM_000021.4(PSEN1):c.1254G>T (p.Leu418Phe)

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 73219139 (on Assembly GRCh38)
• Chr14: 73685847 (on Assembly GRCh37)

Preferred name:

NM_000021.4(PSEN1):c.1254G>T (p.Leu418Phe)

HGVS:

• NC_000014.9:g.73219139G>T
• NG_007386.2:g.87669G>T
• NM_000021.4:c.1254G>TMANE SELECT
• NM_007318.3:c.1242G>T
• NP_000012.1:p.Leu418Phe
• NP_015557.2:p.Leu414Phe
• LRG_224t1:c.1254G>T
• LRG_224:g.87669G>T
• LRG_224p1:p.Leu418Phe
• NC_000014.8:g.73685847G>T
• P49768:p.Leu418Phe

This HGVS expression did not pass validation

Protein change:

L414F

Links:

UniProtKB: P49768#VAR_075278; dbSNP: rs63751316

NCBI 1000 Genomes Browser:

rs63751316

Molecular consequence:

• NM_000021.4:c.1254G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007318.3:c.1242G>T - missense variant - [Sequence Ontology: SO:0001583]