ClinVar

NM_015627.3(LDLRAP1):c.432C>T (p.His144=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.11

Genomic location:

• Chr1: 25557240 (on Assembly GRCh38)
• Chr1: 25883731 (on Assembly GRCh37)

Preferred name:

NM_015627.3(LDLRAP1):c.432C>T (p.His144=)

HGVS:

• NC_000001.11:g.25557240C>T
• NG_008932.1:g.18656C>T
• NM_015627.3:c.432C>TMANE SELECT
• NP_056442.2:p.His144=
• NP_056442.2:p.His144=
• LRG_276t1:c.432C>T
• LRG_276:g.18656C>T
• LRG_276p1:p.His144=
• NC_000001.10:g.25883731C>T
• NM_015627.2:c.432C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200840583

NCBI 1000 Genomes Browser:

rs200840583

Molecular consequence:

• NM_015627.3:c.432C>T - synonymous variant - [Sequence Ontology: SO:0001819]