RGD:15134534 Rat Genome Database

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Variant: RGD:15134534 -  Homo sapiens

RGD ID: 15134534
RS ID: rs139186585
ClinVar ID: CV694810
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NSDHL  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 X 152,037,431
GRCh38 X 152,868,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001129765.2:c.893G>T
NM_015922.3:c.893G>T
NG_009163.2:g.42921G>T
NC_000023.11:g.152868887G>T
More... 		10/24/2018 missense variant likely benign CK syndrome; Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome; MENTAL RETARDATION, X-LINKED, WITH THIN BODY HABITUS AND CORTICAL MALFORMATION; none provided; NSDHL-Related Disorders
Disease Annotations     Click to see Annotation Detail View
CHILD syndrome  (IAGP)
CK syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:NSDHL
Accession:NM_001129765
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRF
FLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTE
DLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYLVAYYLALLLSLLVMVISPVIQL
QPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*

Gene Symbol:NSDHL
Accession:NM_015922
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRF
FLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTE
DLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYLVAYYLALLLSLLVMVISPVIQL
QPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*

Gene Symbol:NSDHL
Accession:XM_011531178
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 298
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRF
FLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTE
DLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYLVAYYLALLLSLLVMVISPVIQL
QPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*

Gene Symbol:NSDHL
Accession:XM_017029564
Location:EXON
Amino Acid Prediction: W to L (nonsynonymous)
Amino Acid Position: 314
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKEKLITNGTIFCFEMEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAV
NVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTS
SASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKM
KFVIGNGKNLVDFTFVENVVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYLVAYYLA
LLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000876487 CLINVAR
  RCV002478993 CLINVAR
  RCV003955743 CLINVAR
dbSNP (RS) rs139186585 CLINVAR
MedGen C0265267 CLINVAR
  C3661900 CLINVAR
NCBI Gene NSDHL CLINVAR
OMIM 300275 CLINVAR
  300831 CLINVAR
  308050 CLINVAR
SNOMED CT 17608003 CLINVAR