ClinVar

NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11p11.2

Genomic location:

• Chr11: 47448835 (on Assembly GRCh38)
• Chr11: 47470387 (on Assembly GRCh37)

Preferred name:

NM_005055.5(RAPSN):c.130C>T (p.Arg44Cys)

HGVS:

• NC_000011.10:g.47448835G>A
• NG_008312.1:g.5344C>T
• NM_005055.5:c.130C>TMANE SELECT
• NM_032645.5:c.130C>T
• NP_005046.2:p.Arg44Cys
• NP_116034.2:p.Arg44Cys
• NC_000011.9:g.47470387G>A

This HGVS expression did not pass validation

Protein change:

R44C

Links:

dbSNP: rs772236739

NCBI 1000 Genomes Browser:

rs772236739

Molecular consequence:

• NM_005055.5:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_032645.5:c.130C>T - missense variant - [Sequence Ontology: SO:0001583]