ClinVar

NM_183065.4(TMEM107):c.*751C>T

Genes:

SNORD118:small nucleolar RNA, C/D box 118 [Gene - OMIM - HGNC]
TMEM107:transmembrane protein 107 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

• Chr17: 8173452 (on Assembly GRCh38)
• Chr17: 8076770 (on Assembly GRCh37)

Preferred name:

NM_183065.4(TMEM107):c.*751C>T

HGVS:

• NC_000017.11:g.8173452G>A
• NG_054916.1:g.7960C>T
• NG_056674.1:g.5137C>T
• NM_001351278.2:c.*751C>T
• NM_001351279.2:c.*751C>T
• NM_001351280.2:c.*751C>T
• NM_032354.3:c.*751C>T
• NM_032354.5:c.*751C>T
• NM_183065.4:c.*751C>TMANE SELECT
• LRG_1204:g.5137C>T
• NC_000017.10:g.8076770G>A
• NM_183065.4:c.*751C>T
• NR_147092.2:n.1002C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs117595965

NCBI 1000 Genomes Browser:

rs117595965

Molecular consequence:

• NM_001351278.2:c.*751C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001351279.2:c.*751C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001351280.2:c.*751C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_032354.5:c.*751C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_183065.4:c.*751C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NR_147092.2:n.1002C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

21