ClinVar

NM_024589.3(ROGDI):c.555G>C (p.Pro185=)

Gene:

ROGDI:rogdi atypical leucine zipper [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 4798161 (on Assembly GRCh38)
• Chr16: 4848162 (on Assembly GRCh37)

Preferred name:

NM_024589.3(ROGDI):c.555G>C (p.Pro185=)

HGVS:

• NC_000016.10:g.4798161C>G
• NG_032174.1:g.9790G>C
• NM_024589.3:c.555G>CMANE SELECT
• NP_078865.1:p.Pro185=
• NP_078865.1:p.Pro185=
• LRG_455t1:c.555G>C
• LRG_455:g.9790G>C
• LRG_455p1:p.Pro185=
• NC_000016.9:g.4848162C>G
• NM_024589.2:c.555G>C
• NR_046480.2:n.562G>C

This HGVS expression did not pass validation

Links:

dbSNP: rs771793763

NCBI 1000 Genomes Browser:

rs771793763

Molecular consequence:

• NR_046480.2:n.562G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_024589.3:c.555G>C - synonymous variant - [Sequence Ontology: SO:0001819]