ClinVar

NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)

Genes:

LOC126861140:CDK7 strongly-dependent group 2 enhancer GRCh37_chr11:10785333-10786532 [Gene]
CTR9:CTR9 homolog, Paf1/RNA polymerase II complex component [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11p15.4

Genomic location:

• Chr11: 10763811 (on Assembly GRCh38)
• Chr11: 10785358 (on Assembly GRCh37)

Preferred name:

NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)

HGVS:

• NC_000011.10:g.10763811G>A
• NG_051671.1:g.17825G>A
• NM_001346279.2:c.1126G>A
• NM_014633.5:c.1126G>AMANE SELECT
• NP_001333208.1:p.Glu376Lys
• NP_055448.1:p.Glu376Lys
• NC_000011.9:g.10785358G>A
• NM_014633.4:c.1126G>A

This HGVS expression did not pass validation

Protein change:

E376K

Links:

dbSNP: rs869312709

NCBI 1000 Genomes Browser:

rs869312709

Molecular consequence:

• NM_001346279.2:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014633.5:c.1126G>A - missense variant - [Sequence Ontology: SO:0001583]