rs747900430 Rat Genome Database

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Variant: rs747900430 -  Homo sapiens

RGD ID: 152982856
RS ID: rs747900430
ClinVar ID: CV1674728
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 30,193,824
GRCh38 19 29,702,917
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001031726.4:c.221C>G
NM_001256046.3:c.221C>G
NM_001256047.2:c.221C>G
NM_031448.6:c.221C>G
More... 		05/02/2023 missense variant uncertain significance none provided; Spastic paraplegia 43, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C19orf12
Accession:NM_001031726
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVRQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001256047
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVRQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001256046
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVRQILMEL
PPAEQQRLFNEAAAIIRPCSSSCWPCW*

Gene Symbol:C19orf12
Accession:NM_001282929
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVRQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_024451735
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVRQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282931
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVRQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_024451734
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVRQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ
LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_047439496
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 128
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVRQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ
LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_031448
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 74
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVRQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_047439497
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVRQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282930
Location:EXON
Amino Acid Prediction: P to R (nonsynonymous)
Amino Acid Position: 10
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVRQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002237734 CLINVAR
  RCV003883795 CLINVAR
dbSNP (RS) rs747900430 CLINVAR
MedGen C2680446 CLINVAR
  C3661900 CLINVAR
NCBI Gene C19orf12 CLINVAR
OMIM 614297 CLINVAR
  615043 CLINVAR