ClinVar

NM_000518.5(HBB):c.316-238C>T

Genes:

LOC110006319:beta-globin gene 3' regulatory region [Gene]
HBB:hemoglobin subunit beta [Gene - OMIM - HGNC]
LOC107133510:origin of replication at HBB [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 5225964 (on Assembly GRCh38)
• Chr11: 5247194 (on Assembly GRCh37)

Preferred name:

NM_000518.5(HBB):c.316-238C>T

Other names:

IVS-II-613 C>T

HGVS:

• NC_000011.10:g.5225964G>A
• NG_000007.3:g.71652C>T
• NG_046672.1:g.3899G>A
• NG_053049.1:g.2285G>A
• NG_059281.1:g.6108C>T
• NM_000518.5:c.316-238C>TMANE SELECT
• LRG_1232t1:c.316-238C>T
• LRG_1232:g.6108C>T
• NC_000011.9:g.5247194G>A
• NM_000518.4:c.316-238C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs558554234

NCBI 1000 Genomes Browser:

rs558554234

Molecular consequence:

• NM_000518.5:c.316-238C>T - intron variant - [Sequence Ontology: SO:0001627]

Functional consequence:

Decreased function