RGD:156213300 Rat Genome Database

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Variant: RGD:156213300 -  Homo sapiens

RGD ID: 156213300
ClinVar ID: CV2114609
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C19orf12  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 30,193,711
GRCh38 19 29,702,804
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001282929.1:c.142A>G
NM_001282930.3:c.142A>G
NM_001282931.3:c.142A>G
NM_001256046.3:c.291-12A>G
More... 		03/16/2022 intron variant uncertain significance Spastic paraplegia 43, autosomal recessive
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C19orf12
Accession:NM_031448
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_024451734
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ
LTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282929
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001031726
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001256047
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_024451735
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 112
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL
PPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282930
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_047439497
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001282931
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 48
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQLTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:XM_047439496
Location:EXON
Amino Acid Prediction: M to V (nonsynonymous)
Amino Acid Position: 166
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK
HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ
LTALVVGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:C19orf12
Accession:NM_001256046
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002932151 CLINVAR
MedGen C2680446 CLINVAR
NCBI Gene C19orf12 CLINVAR
OMIM 614297 CLINVAR
  615043 CLINVAR