RGD:156149627 Rat Genome Database

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Variant: RGD:156149627 -  Homo sapiens

RGD ID: 156149627
ClinVar ID: CV1895876
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDC  DDC-AS1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 50,607,643
GRCh38 7 50,539,945
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008742.1:g.30512C>T
NP_000781.2:p.Cys95=
NM_001242888.2:c.201+3940C>T
NM_001242886.2:c.202-1966C>T
More... 		09/27/2022 intron variant likely benign Aromatic amino acid decarboxylase deficiency; DDC deficiency; Dopa decarboxylase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:DDC
Accession:NM_001082971
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADML*GAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:NM_001242889
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADML*GAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQMVATLGTTTCCSFDN
LLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYL
KHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRL
KGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_001242887
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADML*GAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLL
NGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRM
YGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRF
AICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_000790
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADML*GAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:NM_001242890
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADML*GAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWSRQPV
RMLRLKKTCLVSAVVRRS*

Gene Symbol:DDC
Accession:XM_047419932
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADML*GAIGCIGFSWGCCLGRGSNQPIRCVQSLGAGGSLEKGLAPACKPPVPPYLEAASPACTELETVMM
DWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAG
LIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAF
ICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRS
LKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCH
LRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:XM_047419931
Location:EXON
Amino Acid Prediction: C to * (nonsynonymous)
Amino Acid Position: 95
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADML*GAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKAGEGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC-AS1
Accession:NR_033845
Location:EXON;NON-CODING

Gene Symbol:DDC
Accession:NM_001242888
Location:INTRON

Gene Symbol:DDC
Accession:NM_001242886
Location:INTRON

Gene Symbol:DDC
Accession:XM_005271745
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003082505 CLINVAR
MedGen C1291564 CLINVAR
NCBI Gene DDC CLINVAR
  DDC-AS1 CLINVAR
OMIM 107930 CLINVAR
  608643 CLINVAR
SNOMED CT 124600004 CLINVAR