RGD:9683360 Rat Genome Database

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Variant: RGD:9683360 -  Homo sapiens

RGD ID: 9683360
RS ID: rs587784224
ClinVar ID: CV170078
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NSDHL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 152,036,155
GRCh38 X 152,867,611
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NC_000023.11:g.152867611G>A
NC_000023.10:g.152036155G>A
NP_001123237.1:p.Val243Met
NP_057006.1:p.Val243Met
More... 		08/31/2017 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance neonatal/infancy <1 / 1 000 000 Congenital Hemidysplasia with Ichthyosiform nevus and Limb Defects; Ichthyosis, CHILD syndrome; none provided
Disease Annotations     Click to see Annotation Detail View
CHILD syndrome  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:NSDHL
Accession:NM_001129765
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRF
FLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTE
DLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENMVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQL
QPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*

Gene Symbol:NSDHL
Accession:NM_015922
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRF
FLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTE
DLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENMVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQL
QPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*

Gene Symbol:NSDHL
Accession:XM_011531178
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 243
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAVNVFDIQQGFDNPQVRF
FLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTSSASVIFEGVDIKNGTE
DLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKMKFVIGNGKNLVDFTFV
ENMVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLALLLSLLVMVISPVIQL
QPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*

Gene Symbol:NSDHL
Accession:XM_017029564
Location:EXON
Amino Acid Prediction: V to M (nonsynonymous)
Amino Acid Position: 259
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKEKLITNGTIFCFEMEPAVSEPMRDQVARTHLTEDTPKVNADIEKVNQNQAKRCTVIGGSGFLGQHMVEQLLARGYAV
NVFDIQQGFDNPQVRFFLGDLCSRQDLYPALKGVNTVFHCASPPPSSNNKELFYRVNYIGTKNVIETCKEAGVQKLILTS
SASVIFEGVDIKNGTEDLPYAMKPIDYYTETKILQERAVLGANDPEKNFLTTAIRPHGIFGPRDPQLVPILIEAARNGKM
KFVIGNGKNLVDFTFVENMVHGHILAAEQLSRDSTLGGKAFHITNDEPIPFWTFLSRILTGLNYEAPKYHIPYWVAYYLA
LLLSLLVMVISPVIQLQPTFTPMRVALAGTFHYYSCERAKKAMGYQPLVTMDDAMERTVQSFRHLRRVK*
Variant Samples
Additional References at PubMed
PMID:18414213   PMID:28492532   PMID:34787337  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000146964 CLINVAR
  RCV000412977 CLINVAR
dbSNP (RS) rs587784224 CLINVAR
MedGen C0265267 CLINVAR
  C3661900 CLINVAR
NCBI Gene NSDHL CLINVAR
OMIM 300275 CLINVAR
  308050 CLINVAR
SNOMED CT 17608003 CLINVAR