ClinVar

NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala)

Gene:

RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 8360242 (on Assembly GRCh38)
• Chr1: 8420302 (on Assembly GRCh37)

Preferred name:

NM_001042681.2(RERE):c.3265C>G (p.Pro1089Ala)

HGVS:

• NC_000001.11:g.8360242G>C
• NG_047035.1:g.462450C>G
• NM_001042681.2:c.3265C>GMANE SELECT
• NM_001042682.2:c.1603C>G
• NM_012102.4:c.3265C>G
• NP_001036146.1:p.Pro1089Ala
• NP_001036147.1:p.Pro535Ala
• NP_036234.3:p.Pro1089Ala
• NC_000001.10:g.8420302G>C
• NM_012102.3:c.3265C>G

This HGVS expression did not pass validation

Protein change:

P1089A

Links:

dbSNP: rs1259871272

NCBI 1000 Genomes Browser:

rs1259871272

Molecular consequence:

• NM_001042681.2:c.3265C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001042682.2:c.1603C>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_012102.4:c.3265C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1