ClinVar

NM_000246.4(CIITA):c.2109G>T (p.Glu703Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

• Chr16: 10907601 (on Assembly GRCh38)
• Chr16: 11001458 (on Assembly GRCh37)

Preferred name:

NM_000246.4(CIITA):c.2109G>T (p.Glu703Asp)

HGVS:

• NC_000016.10:g.10907601G>T
• NG_009628.1:g.35404G>T
• NM_000246.4:c.2109G>TMANE SELECT
• NM_001286402.1:c.2112G>T
• NM_001286403.2:c.860-1382G>T
• NM_001379330.1:c.1965G>T
• NM_001379331.1:c.1962G>T
• NM_001379332.1:c.2112G>T
• NM_001379333.1:c.2109G>T
• NM_001379334.1:c.2040G>T
• NP_000237.2:p.Glu703Asp
• NP_000237.2:p.Glu703Asp
• NP_001273331.1:p.Glu704Asp
• NP_001366259.1:p.Glu655Asp
• NP_001366260.1:p.Glu654Asp
• NP_001366261.1:p.Glu704Asp
• NP_001366262.1:p.Glu703Asp
• NP_001366263.1:p.Glu680Asp
• LRG_49t1:c.2109G>T
• LRG_49:g.35404G>T
• LRG_49p1:p.Glu703Asp
• NC_000016.9:g.11001458G>T
• NM_000246.3:c.2109G>T

This HGVS expression did not pass validation

Protein change:

E654D

Links:

dbSNP: rs915701076

NCBI 1000 Genomes Browser:

rs915701076

Molecular consequence:

• NM_001286403.2:c.860-1382G>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_000246.4:c.2109G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286402.1:c.2112G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379330.1:c.1965G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379331.1:c.1962G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379332.1:c.2112G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379333.1:c.2109G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001379334.1:c.2040G>T - missense variant - [Sequence Ontology: SO:0001583]