ClinVar

NM_000246.4(CIITA):c.-4C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

• Chr16: 10877327 (on Assembly GRCh38)
• Chr16: 10971184 (on Assembly GRCh37)

Preferred name:

NM_000246.4(CIITA):c.-4C>T

HGVS:

• NC_000016.10:g.10877327C>T
• NG_009628.1:g.5130C>T
• NM_000246.4:c.-4C>TMANE SELECT
• NM_001286402.1:c.-4C>T
• NM_001286403.2:c.-4C>T
• NM_001379330.1:c.-4C>T
• NM_001379331.1:c.-4C>T
• NM_001379332.1:c.-4C>T
• NM_001379333.1:c.-4C>T
• LRG_49t1:c.-4C>T
• LRG_49:g.5130C>T
• NC_000016.9:g.10971184C>T
• NM_000246.3:c.-4C>T
• NR_104444.2:n.126C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs763404027

NCBI 1000 Genomes Browser:

rs763404027

Molecular consequence:

• NM_000246.4:c.-4C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001286402.1:c.-4C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001286403.2:c.-4C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001379330.1:c.-4C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001379331.1:c.-4C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001379332.1:c.-4C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001379333.1:c.-4C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NR_104444.2:n.126C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]