RGD:11661714 Rat Genome Database

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Variant: RGD:11661714 -  Homo sapiens

RGD ID: 11661714
RS ID: rs886062375
ClinVar ID: CV303190
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DDC  DDC-AS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 50,605,581
GRCh38 7 50,537,883
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
NG_008742.1:g.32574G>A
NC_000007.14:g.50537883C>T
NC_000007.13:g.50605581C>T
NM_001242887.2:c.412G>A
More... 		06/14/2016 intron variant uncertain significance infancy <1 / 1 000 000 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_001242886
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGAASPACTELETVM
MDWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERA
GLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSA
FICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFR
SLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPC
HLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_001242889
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKA*EGGGVIQMVATLGTTTCCSFDN
LLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYL
KHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRL
KGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_001242890
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWSRQPV
RMLRLKKTCLVSAVVRRS*

Gene Symbol:DDC
Accession:NM_001082971
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:NM_001242887
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLL
NGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRM
YGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRF
AICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:XM_047419931
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:NM_000790
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 138
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWAASPACTELETVMMDWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAAR
TKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAGLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMV
ATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAFICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRT
DLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRSLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEI
CVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCHLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE
*

Gene Symbol:DDC
Accession:XM_047419932
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 179
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGVTHWHSPYFFAYF
PTASSYPAMLADMLCGAIGCIGFSWGCCLGRGSNQPIRCVQSLGAGGSLEKGLAPACKPPVPPYLEAASPACTELETVMM
DWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERAG
LIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSAF
ICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFRS
LKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPCH
LRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:XM_005271745
Location:EXON
Amino Acid Prediction: G to * (nonsynonymous)
Amino Acid Position: 100
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNASEFRRRGKEMVDYMANYMEGIEGRQVYPDVEPGYLRPLIPAAAPQEPDTFEDIINDVEKIIMPGAASPACTELETVM
MDWLGKMLELPKAFLNEKA*EGGGVIQGSASEATLVALLAARTKVIHRLQAASPELTQAAIMEKLVAYSSDQAHSSVERA
GLIGGVKLKAIPSDGNFAMRASALQEALERDKAAGLIPFFMVATLGTTTCCSFDNLLEVGPICNKEDIWLHVDAAYAGSA
FICPEFRHLLNGVEFADSFNFNPHKWLLVNFDCSAMWVKKRTDLTGAFRLDPTYLKHSHQDSGLITDYRHWQIPLGRRFR
SLKMWFVFRMYGVKGLQAYIRKHVQLSHEFESLVRQDPRFEICVEVILGLVCFRLKGSNKVNEALLQRINSAKKIHLVPC
HLRDKFVLRFAICSRTVESAHVQRAWEHIKELAADVLRAERE*

Gene Symbol:DDC
Accession:NM_001242888
Location:INTRON

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000379355 CLINVAR
dbSNP (RS) rs886062375 CLINVAR
MedGen C1291564 CLINVAR
NCBI Gene DDC CLINVAR
  DDC-AS1 CLINVAR
OMIM 107930 CLINVAR
  608643 CLINVAR
SNOMED CT 124600004 CLINVAR