ClinVar

NM_001034850.3(RETREG1):c.*206A>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.1

Genomic location:

• Chr5: 16474535 (on Assembly GRCh38)
• Chr5: 16474644 (on Assembly GRCh37)

Preferred name:

NM_001034850.3(RETREG1):c.*206A>C

HGVS:

• NC_000005.10:g.16474535T>G
• NG_016644.2:g.147475A>C
• NM_001034850.3:c.*206A>CMANE SELECT
• NM_019000.5:c.*206A>C
• LRG_363t1:c.*206A>C
• LRG_363:g.147475A>C
• NC_000005.9:g.16474644T>G
• NM_001034850.2:c.*206A>C

This HGVS expression did not pass validation

Links:

dbSNP: rs32147

NCBI 1000 Genomes Browser:

rs32147

Molecular consequence:

• NM_001034850.3:c.*206A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_019000.5:c.*206A>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]