ClinVar

NM_016492.5(RANGRF):c.77+5G>A

Genes:

RANGRF:RAN guanine nucleotide release factor [Gene - OMIM - HGNC]
SLC25A35:solute carrier family 25 member 35 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8288870 (on Assembly GRCh38)
• Chr17: 8192188 (on Assembly GRCh37)

Preferred name:

NM_016492.5(RANGRF):c.77+5G>A

HGVS:

• NC_000017.11:g.8288870G>A
• NG_028189.1:g.5220G>A
• NG_194662.1:g.48G>A
• NM_001177801.2:c.77+5G>A
• NM_001177802.2:c.77+5G>A
• NM_001320871.2:c.*43-438C>T
• NM_001320872.2:c.*613C>T
• NM_001330127.2:c.77+5G>A
• NM_016492.5:c.77+5G>AMANE SELECT
• NM_201520.3:c.*746C>T
• NC_000017.10:g.8192188G>A
• NM_016492.4:c.77+5G>A
• NR_135483.2:n.2291C>T
• NR_135484.2:n.2127C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs369372561

NCBI 1000 Genomes Browser:

rs369372561

Molecular consequence:

• NM_001320872.2:c.*613C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_201520.3:c.*746C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001177801.2:c.77+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177802.2:c.77+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320871.2:c.*43-438C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330127.2:c.77+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_016492.5:c.77+5G>A - intron variant - [Sequence Ontology: SO:0001627]
• NR_135483.2:n.2291C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_135484.2:n.2127C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]