7q11.23-distal Copy Number Variation - CNVs Booklet

7q11.23-distal Copy Number Variation

Description

Genomic location GRCh37/hg19

Chr7:75138294-76064412

Cytoband Image

Disorder Information from Orphanet

  1. ORPHA: 254351 Distal microdeletion syndrome
    OMIM: 613729
    Disease description: No description available.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: No phenotypic features available.
  2. ORPHA: 261102 Distal microduplication syndrome
    OMIM:
    Disease description: No description available.
    World-wide prevalence: <1 / 1 000 000
    Very frequent (99–80%) phenotypic features: Delayed speech and language development, Intellectual disability, mild, Aortic aneurysm

Interactive Pathway Viewer

View on WikiPathways

Gene Information

HGNC Gene Name NCBI Ensembl UniProt
RHBDD2 rhomboid domain containing 2 57414 ENSG00000005486 Q6NTF9
POR cytochrome p450 oxidoreductase 5447 ENSG00000127948 P16435
TMEM120A transmembrane protein 120A 83862 ENSG00000189077 Q9BXJ8
STYXL1 serine/threonine/tyrosine interacting like 1 51657 ENSG00000127952 Q9Y6J8
MDH2 malate dehydrogenase 2 4191 ENSG00000146701 P40926
SRRM3 serine/arginine repetitive matrix 3 222183 ENSG00000177679 A6NNA2
HSPB1 heat shock protein family B (small) member 1 3315 ENSG00000106211 P04792
YWHAG tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein gamma 7532 ENSG00000170027 P61981
SSC4D scavenger receptor cysteine rich family member with 4 domains 136853 ENSG00000146700 Q8WTU2
ZP3 zona pellucida glycoprotein 3 7784 ENSG00000188372 P21754