ClinVar

NM_000021.4(PSEN1):c.1303C>T (p.Leu435Phe)

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 73219188 (on Assembly GRCh38)
• Chr14: 73685896 (on Assembly GRCh37)

Preferred name:

NM_000021.4(PSEN1):c.1303C>T (p.Leu435Phe)

HGVS:

• NC_000014.9:g.73219188C>T
• NG_007386.2:g.87718C>T
• NM_000021.4:c.1303C>TMANE SELECT
• NM_007318.3:c.1291C>T
• NP_000012.1:p.Leu435Phe
• NP_015557.2:p.Leu431Phe
• LRG_224t1:c.1303C>T
• LRG_224:g.87718C>T
• LRG_224p1:p.Leu435Phe
• NC_000014.8:g.73685896C>T
• P49768:p.Leu435Phe

This HGVS expression did not pass validation

Protein change:

L431F

Links:

UniProtKB: P49768#VAR_075280; dbSNP: rs63750001

NCBI 1000 Genomes Browser:

rs63750001

Molecular consequence:

• NM_000021.4:c.1303C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_007318.3:c.1291C>T - missense variant - [Sequence Ontology: SO:0001583]