ClinVar

NM_000246.4(CIITA):c.2697G>A (p.Leu899=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.13

Genomic location:

• Chr16: 10909068 (on Assembly GRCh38)
• Chr16: 11002925 (on Assembly GRCh37)

Preferred name:

NM_000246.4(CIITA):c.2697G>A (p.Leu899=)

HGVS:

• NC_000016.10:g.10909068G>A
• NG_009628.1:g.36871G>A
• NM_000246.4:c.2697G>AMANE SELECT
• NM_001286402.1:c.2700G>A
• NM_001286403.2:c.945G>A
• NM_001379330.1:c.2553G>A
• NM_001379331.1:c.2550G>A
• NM_001379332.1:c.2700G>A
• NM_001379333.1:c.2697G>A
• NM_001379334.1:c.2628G>A
• NP_000237.2:p.Leu899=
• NP_000237.2:p.Leu899=
• NP_001273331.1:p.Leu900=
• NP_001273332.1:p.Leu315=
• NP_001366259.1:p.Leu851=
• NP_001366260.1:p.Leu850=
• NP_001366261.1:p.Leu900=
• NP_001366262.1:p.Leu899=
• NP_001366263.1:p.Leu876=
• LRG_49t1:c.2697G>A
• LRG_49:g.36871G>A
• LRG_49p1:p.Leu899=
• NC_000016.9:g.11002925G>A
• NM_000246.3:c.2697G>A

This HGVS expression did not pass validation

Molecular consequence:

• NM_000246.4:c.2697G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286402.1:c.2700G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001286403.2:c.945G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379330.1:c.2553G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379331.1:c.2550G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379332.1:c.2700G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379333.1:c.2697G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001379334.1:c.2628G>A - synonymous variant - [Sequence Ontology: SO:0001819]