ClinVar

NM_016492.5(RANGRF):c.194+15C>T

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: 8289087 (on Assembly GRCh38)
• Chr17: 8192405 (on Assembly GRCh37)

Preferred name:

NM_016492.5(RANGRF):c.194+15C>T

HGVS:

• NC_000017.11:g.8289087C>T
• NG_028189.1:g.5437C>T
• NG_194662.1:g.265C>T
• NG_194663.1:g.65C>T
• NM_001177801.2:c.194+15C>T
• NM_001177802.2:c.194+15C>T
• NM_001320871.2:c.*42+487G>A
• NM_001320872.2:c.*396G>A
• NM_001330127.2:c.194+15C>T
• NM_016492.5:c.194+15C>TMANE SELECT
• NM_201520.3:c.*529G>A
• NC_000017.10:g.8192405C>T
• NR_135483.2:n.2074G>A
• NR_135484.2:n.1910G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_001320872.2:c.*396G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_201520.3:c.*529G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001177801.2:c.194+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177802.2:c.194+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001320871.2:c.*42+487G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001330127.2:c.194+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_016492.5:c.194+15C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_135483.2:n.2074G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_135484.2:n.1910G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]