ClinVar

NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.1

Genomic location:

• Chr5: 16474758 (on Assembly GRCh38)
• Chr5: 16474867 (on Assembly GRCh37)

Preferred name:

NM_001034850.3(RETREG1):c.1477C>T (p.Leu493=)

HGVS:

• NC_000005.10:g.16474758G>A
• NG_016644.2:g.147252C>T
• NM_001034850.3:c.1477C>TMANE SELECT
• NM_019000.5:c.1054C>T
• NP_001030022.1:p.Leu493=
• NP_001030022.1:p.Leu493=
• NP_061873.2:p.Leu352=
• LRG_363t1:c.1477C>T
• LRG_363:g.147252C>T
• LRG_363p1:p.Leu493=
• NC_000005.9:g.16474867G>A
• NM_001034850.2:c.1477C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs759739482

NCBI 1000 Genomes Browser:

rs759739482

Molecular consequence:

• NM_001034850.3:c.1477C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_019000.5:c.1054C>T - synonymous variant - [Sequence Ontology: SO:0001819]