ClinVar

NM_003977.4(AIP):c.100-18C>T

Genes:

LOC130006206:ATAC-STARR-seq lymphoblastoid active region 5107 [Gene]
AIP:aryl hydrocarbon receptor interacting protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

• Chr11: 67486988 (on Assembly GRCh38)
• Chr11: 67254459 (on Assembly GRCh37)

Preferred name:

NM_003977.4(AIP):c.100-18C>T

HGVS:

• NC_000011.10:g.67486988C>T
• NG_008969.1:g.8955C>T
• NM_001302959.2:c.-78-18C>T
• NM_001302960.2:c.100-18C>T
• NM_003977.4:c.100-18C>TMANE SELECT
• LRG_460t1:c.100-18C>T
• LRG_460:g.8955C>T
• NC_000011.9:g.67254459C>T
• NM_003977.2:c.100-18C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs202156895

NCBI 1000 Genomes Browser:

rs202156895

Molecular consequence:

• NM_001302959.2:c.-78-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001302960.2:c.100-18C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_003977.4:c.100-18C>T - intron variant - [Sequence Ontology: SO:0001627]

Observations:

21