ClinVar

NC_000017.11:g.42609362G>A

Genes:

TUBG1:tubulin gamma 1 [Gene - OMIM - HGNC]
LOC130060913:ATAC-STARR-seq lymphoblastoid active region 12211 [Gene]
RETREG3:reticulophagy regulator family member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q21.2

Genomic location:

• Chr17: 42609362 (on Assembly GRCh38)
• Chr17: 40761380 (on Assembly GRCh37)

Preferred name:

NC_000017.11:g.42609362G>A

HGVS:

• NC_000017.11:g.42609362G>A
• NG_033886.1:g.5023G>A
• NM_178126.4:c.-38C>TMANE SELECT
• NC_000017.10:g.40761380G>A
• NR_026697.2:n.66C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs200561451

NCBI 1000 Genomes Browser:

rs200561451

Molecular consequence:

• NM_178126.4:c.-38C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_026697.2:n.66C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]