ClinVar

NM_006079.5(CITED2):c.21C>A (p.Ala7=)

Gene:

CITED2:Cbp/p300 interacting transactivator with Glu/Asp rich carboxy-terminal domain 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q24.1

Genomic location:

• Chr6: 139373924 (on Assembly GRCh38)
• Chr6: 139695061 (on Assembly GRCh37)

Preferred name:

NM_006079.5(CITED2):c.21C>A (p.Ala7=)

HGVS:

• NC_000006.12:g.139373924G>T
• NG_016169.1:g.5725C>A
• NM_001168388.3:c.21C>A
• NM_001168389.2:c.36C>A
• NM_001168389.3:c.36C>A
• NM_006079.5:c.21C>AMANE SELECT
• NP_001161860.1:p.Ala7=
• NP_001161861.2:p.Ala12=
• NP_006070.2:p.Ala7=
• NC_000006.11:g.139695061G>T
• NM_006079.4:c.21C>A

This HGVS expression did not pass validation

Links:

dbSNP: rs1131400

NCBI 1000 Genomes Browser:

rs1131400

Molecular consequence:

• NM_001168388.3:c.21C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001168389.3:c.36C>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006079.5:c.21C>A - synonymous variant - [Sequence Ontology: SO:0001819]