ClinVar

NM_001034850.3(RETREG1):c.900G>A (p.Glu300=)

Gene:

RETREG1:reticulophagy regulator 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.1

Genomic location:

• Chr5: 16477762 (on Assembly GRCh38)
• Chr5: 16477871 (on Assembly GRCh37)

Preferred name:

NM_001034850.3(RETREG1):c.900G>A (p.Glu300=)

HGVS:

• NC_000005.10:g.16477762C>T
• NG_016644.2:g.144248G>A
• NM_001034850.3:c.900G>AMANE SELECT
• NM_019000.5:c.477G>A
• NP_001030022.1:p.Glu300=
• NP_001030022.1:p.Glu300=
• NP_061873.2:p.Glu159=
• LRG_363t1:c.900G>A
• LRG_363:g.144248G>A
• LRG_363p1:p.Glu300=
• NC_000005.9:g.16477871C>T
• NC_000005.9:g.16477871C>T
• NM_001034850.2:c.900G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs368710242

NCBI 1000 Genomes Browser:

rs368710242

Molecular consequence:

• NM_001034850.3:c.900G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019000.5:c.477G>A - synonymous variant - [Sequence Ontology: SO:0001819]