ClinVar

NM_001042681.2(RERE):c.4638C>T (p.Gly1546=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1p36.23

Genomic location:

• Chr1: 8355448 (on Assembly GRCh38)
• Chr1: 8415508 (on Assembly GRCh37)

Preferred name:

NM_001042681.2(RERE):c.4638C>T (p.Gly1546=)

HGVS:

• NC_000001.11:g.8355448G>A
• NG_047035.1:g.467244C>T
• NM_001042681.2:c.4638C>TMANE SELECT
• NM_001042682.2:c.2976C>T
• NM_012102.4:c.4638C>T
• NP_001036146.1:p.Gly1546=
• NP_001036147.1:p.Gly992=
• NP_036234.3:p.Gly1546=
• NC_000001.10:g.8415508G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs148510143

NCBI 1000 Genomes Browser:

rs148510143

Molecular consequence:

• NM_001042681.2:c.4638C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001042682.2:c.2976C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012102.4:c.4638C>T - synonymous variant - [Sequence Ontology: SO:0001819]