ClinVar

NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)

Gene:

LDLRAP1:low density lipoprotein receptor adaptor protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

• Chr1: 25563142 (on Assembly GRCh38)
• Chr1: 25889633 (on Assembly GRCh37)

Preferred name:

NM_015627.3(LDLRAP1):c.605C>A (p.Ser202Tyr)

Other names:

P202H

HGVS:

• NC_000001.11:g.25563142C>A
• NG_008932.1:g.24558C>A
• NM_015627.3:c.605C>AMANE SELECT
• NP_056442.2:p.Ser202Tyr
• NP_056442.2:p.Ser202Tyr
• LRG_276t1:c.605C>A
• LRG_276:g.24558C>A
• LRG_276p1:p.Ser202Tyr
• NC_000001.10:g.25889633C>A
• NM_015627.2:c.605C>A
• p.(Ser202Tyr)

This HGVS expression did not pass validation

Protein change:

S202Y; PRO202HIS

Links:

OMIM: 605747.0004; dbSNP: rs121908326

NCBI 1000 Genomes Browser:

rs121908326

Molecular consequence:

• NM_015627.3:c.605C>A - missense variant - [Sequence Ontology: SO:0001583]