NM_005857.4(ZMPSTE24):c.-172A>CRat Genome Database

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Variant : CV280882 (NM_005857.4(ZMPSTE24):c.-172A>C) Homo sapiens

Symbol: CV280882
Name: NM_005857.4(ZMPSTE24):c.-172A>C
RGD ID: 11586857
Condition: Lethal tight skin contracture syndrome [RCV000345711]|Mandibuloacral dysplasia [RCV000290774]
Clinical Significance: uncertain significance
Last Evaluated: 06/14/2016
Review Status: criteria provided, single submitter
Related Genes: ZMPSTE24  
Variant Type: single nucleotide variant (SO:0001483)
Source: CLINVAR
Molecular Consequence: 5 prime utr variant
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.40258100A>C
NM_005857.4:c.-172A>C
NG_008695.1:g.5040A>C
NC_000001.10:g.40723772A>C
LRG_212:g.5040A>C
Position
Human AssemblyChrPosition (strand)Source
GRCh38140,258,100 - 40,258,100CLINVAR
GRCh37140,723,772 - 40,723,772CLINVAR
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 RCV000290774 CLINVAR
  RCV000345711 CLINVAR
dbSNP (RS) rs151221982 CLINVAR
MedGen C0406585 CLINVAR
  C0432291 CLINVAR
NCBI Gene ZMPSTE24 CLINVAR
OMIM 275210 CLINVAR
  606480 CLINVAR
SNOMED CT 109419009 CLINVAR
  400128006 CLINVAR