ClinVar

NM_000246.4(CIITA):c.2658-149G>T

Gene:

CIITA:class II major histocompatibility complex transactivator [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

• Chr16: 10908880 (on Assembly GRCh38)
• Chr16: 11002737 (on Assembly GRCh37)

Preferred name:

NM_000246.4(CIITA):c.2658-149G>T

HGVS:

• NC_000016.10:g.10908880G>T
• NG_009628.1:g.36683G>T
• NM_000246.4:c.2658-149G>TMANE SELECT
• NM_001286402.1:c.2661-149G>T
• NM_001286403.2:c.860-103G>T
• NM_001379330.1:c.2514-149G>T
• NM_001379331.1:c.2511-149G>T
• NM_001379332.1:c.2661-149G>T
• NM_001379333.1:c.2658-149G>T
• NM_001379334.1:c.2589-149G>T
• LRG_49t1:c.2658-149G>T
• LRG_49:g.36683G>T
• NC_000016.9:g.11002737G>T
• NM_000246.3:c.2658-149G>T

This HGVS expression did not pass validation

Links:

dbSNP: rs199476074

NCBI 1000 Genomes Browser:

rs199476074

Molecular consequence:

• NM_000246.4:c.2658-149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286402.1:c.2661-149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286403.2:c.860-103G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379330.1:c.2514-149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379331.1:c.2511-149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379332.1:c.2661-149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379333.1:c.2658-149G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001379334.1:c.2589-149G>T - intron variant - [Sequence Ontology: SO:0001627]