ClinVar

NM_005055.5(RAPSN):c.776G>A (p.Arg259His)

Gene:

RAPSN:receptor associated protein of the synapse [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 47441836 (on Assembly GRCh38)
• Chr11: 47463388 (on Assembly GRCh37)

Preferred name:

NM_005055.5(RAPSN):c.776G>A (p.Arg259His)

HGVS:

• NC_000011.10:g.47441836C>T
• NG_008312.1:g.12343G>A
• NM_005055.5:c.776G>AMANE SELECT
• NM_032645.5:c.776G>A
• NP_005046.2:p.Arg259His
• NP_116034.2:p.Arg259His
• NC_000011.9:g.47463388C>T
• NM_005055.4:c.776G>A

This HGVS expression did not pass validation

Protein change:

R259H

Links:

dbSNP: rs766051613

NCBI 1000 Genomes Browser:

rs766051613

Molecular consequence:

• NM_005055.5:c.776G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032645.5:c.776G>A - missense variant - [Sequence Ontology: SO:0001583]