ClinVar

NM_014633.5(CTR9):c.384+194T>C

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: 10755391 (on Assembly GRCh38)
• Chr11: 10776938 (on Assembly GRCh37)

Preferred name:

NM_014633.5(CTR9):c.384+194T>C

HGVS:

• NC_000011.10:g.10755391T>C
• NG_051671.1:g.9405T>C
• NM_001346279.2:c.384+194T>C
• NM_014633.5:c.384+194T>CMANE SELECT
• NC_000011.9:g.10776938T>C

This HGVS expression did not pass validation

Links:

dbSNP: rs117966147

NCBI 1000 Genomes Browser:

rs117966147

Molecular consequence:

• NM_001346279.2:c.384+194T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_014633.5:c.384+194T>C - intron variant - [Sequence Ontology: SO:0001627]