ClinVar

NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)

Gene:

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

Variant type:

Microsatellite

Cytogenetic location:

5p15.1

Genomic location:

• Chr5: 16474780 - 16474782 (on Assembly GRCh38)
• Chr5: 16474889 - 16474891 (on Assembly GRCh37)

Preferred name:

NM_001034850.3(RETREG1):c.1450AAG[1] (p.Lys485del)

HGVS:

• NC_000005.10:g.16474780CTT[1]
• NC_000005.9:g.16474889_16474891del
• NG_016644.2:g.147225AAG[1]
• NM_001034850.3:c.1450AAG[1]MANE SELECT
• NM_019000.5:c.1027AAG[1]
• NP_001030022.1:p.Lys485del
• NP_061873.2:p.Lys344del
• LRG_363:g.147225AAG[1]
• NC_000005.9:g.16474889CTT[1]
• NC_000005.9:g.16474889_16474891del
• NC_000005.9:g.16474889_16474891delCTT
• NM_001034850.1:c.1453_1455delAAG
• NM_001034850.2:c.1453_1455delAAG

This HGVS expression did not pass validation

Protein change:

K344del

Links:

dbSNP: rs758081460

NCBI 1000 Genomes Browser:

rs758081460

Molecular consequence:

• NM_001034850.3:c.1450AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
• NM_019000.5:c.1027AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]