ClinVar

NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)

Gene:

PSEN1:presenilin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q24.2

Genomic location:

• Chr14: 73186902 (on Assembly GRCh38)
• Chr14: 73653610 (on Assembly GRCh37)

Preferred name:

NM_000021.4(PSEN1):c.530T>C (p.Phe177Ser)

HGVS:

• NC_000014.9:g.73186902T>C
• NG_007386.2:g.55432T>C
• NM_000021.4:c.530T>CMANE SELECT
• NM_007318.3:c.518T>C
• NP_000012.1:p.Phe177Ser
• NP_015557.2:p.Phe173Ser
• LRG_224t1:c.530T>C
• LRG_224:g.55432T>C
• LRG_224p1:p.Phe177Ser
• NC_000014.8:g.73653610T>C
• P49768:p.Phe177Ser

This HGVS expression did not pass validation

Protein change:

F173S

Links:

UniProtKB: P49768#VAR_075264; dbSNP: rs63749806

NCBI 1000 Genomes Browser:

rs63749806

Molecular consequence:

• NM_000021.4:c.530T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_007318.3:c.518T>C - missense variant - [Sequence Ontology: SO:0001583]