rs1972192000 Rat Genome Database

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Variant: rs1972192000 -  Homo sapiens

RGD ID: 26921429
RS ID: rs1972192000
ClinVar ID: CV847486
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 30,193,882
GRCh38 19 29,702,975
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282930.3:c.-30G>C
NM_001282929.1:c.-30G>C
NM_031448.6:c.163G>C
NG_031970.2:g.17815G>C
More... 		05/03/2019 5 prime utr variant uncertain significance Spastic paraplegia 43, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C19orf12
Accession:XM_047439497
Location:5UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001282931
Location:5UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001282929
Location:5UTRS;EXON

Gene Symbol:C19orf12
Accession:NM_001282930
Location:5UTRS;EXON

Gene Symbol:C19orf12
Accession:XM_024451735
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGRAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_024451734
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGRAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ
LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001031726
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGRAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_031448
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGRAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001256046
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGRAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRPCSSSCWPCW*

Gene Symbol:C19orf12
Accession:NM_001256047
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGRAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_047439496
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 109
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGRAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ
LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*
Variant Samples
Additional References at PubMed
PMID:22584950   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001060989 CLINVAR
dbSNP (RS) rs1972192000 CLINVAR
MedGen C2680446 CLINVAR
NCBI Gene C19orf12 CLINVAR
OMIM 614297 CLINVAR
  615043 CLINVAR