ClinVar

NM_000080.4(CHRNE):c.918-118C>T

Genes:

LOC130060042:ATAC-STARR-seq lymphoblastoid active region 11551 [Gene]
CHRNE:cholinergic receptor nicotinic epsilon subunit [Gene - OMIM - HGNC]
C17orf107:chromosome 17 open reading frame 107 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.2

Genomic location:

• Chr17: 4899700 (on Assembly GRCh38)
• Chr17: 4802995 (on Assembly GRCh37)

Preferred name:

NM_000080.4(CHRNE):c.918-118C>T

HGVS:

• NC_000017.11:g.4899700G>A
• NG_008029.2:g.8376C>T
• NG_028005.1:g.71361G>A
• NG_194463.1:g.188G>A
• NM_000080.4:c.918-118C>TMANE SELECT
• NM_001145536.2:c.-63G>AMANE SELECT
• LRG_1254t1:c.918-118C>T
• LRG_1254:g.8376C>T
• NC_000017.10:g.4802995G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs143413388

NCBI 1000 Genomes Browser:

rs143413388

Molecular consequence:

• NM_001145536.2:c.-63G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_000080.4:c.918-118C>T - intron variant - [Sequence Ontology: SO:0001627]