NM_005857.5(ZMPSTE24):c.-46G>ARat Genome Database

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Variant : CV282440 (NM_005857.5(ZMPSTE24):c.-46G>A) Homo sapiens

Symbol: CV282440
Name: NM_005857.5(ZMPSTE24):c.-46G>A
RGD ID: 11593736
Condition: Lethal tight skin contracture syndrome [RCV000407351]|Mandibuloacral dysplasia [RCV000351669]|not provided [RCV000767313]
Clinical Significance: uncertain significance|not provided
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter|no assertion provided
Related Genes: ZMPSTE24  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing|in vitro
HGVS Name(s): NM_005857.4:c.-46G>A
NG_008695.1:g.5166G>A
NC_000001.10:g.40723898G>A
LRG_212:g.5166G>A
NC_000001.11:g.40258226G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38140,258,226 - 40,258,226CLINVAR
GRCh37140,723,898 - 40,723,898CLINVAR
Cytogenetic Map11p34.2CLINVAR
Trait Synonyms: Fetal hypokinesia sequence due to restrictive dermopathy; Hyperkeratosis-contracture syndrome; Mandibuloacral dysostosis; Restrictive dermopathy, lethal
Age Of Onset: antenatal
Prevalence: <1 / 1 000 000



Disease Annotations     Click to see Annotation Detail View


Additional Information

Database Acc Id Source(s)
ClinVar RCV000351669 CLINVAR
  RCV000407351 CLINVAR
  RCV000767313 CLINVAR
dbSNP (RS) rs200527699 CLINVAR
MedGen C0406585 CLINVAR
  C0432291 CLINVAR
  CN517202 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 275210 CLINVAR
  606480 CLINVAR
SNOMED CT 109419009 CLINVAR
  400128006 CLINVAR