RGD:156124474 Rat Genome Database

RGD:156124474 Rat Genome Database

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Variant: RGD:156124474 - Homo sapiens

RGD ID:

156124474

ClinVar ID:

CV2227350

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	19	30,193,801
GRCh38	19	29,702,894

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001031726.4:c.244C>G NM_001256046.3:c.244C>G NM_001256047.2:c.244C>G NM_031448.6:c.244C>G More...	06/22/2021	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2227350	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	C19orf12
Accession:	NM_001256046
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL PAAEQQRLFNEAAAIIRPCSSSCWPCW*

Gene Symbol:	C19orf12
Accession:	NM_001256047
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL PAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	NM_001282929
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	XM_024451735
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL PAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	NM_031448
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL PAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	NM_001282930
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	NM_001031726
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	82

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTIMVEDIMKLLCSLSGERKMKAAVKHSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMEL PAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	NM_001282931
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	XM_024451734
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPAAEQQRLFNEAAAIIRHLEWTDAVQ LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	XM_047439496
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	136

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPAAEQQRLFNEAAAIIRHLEWTDAVQ LTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

Gene Symbol:	C19orf12
Accession:	XM_047439497
Location:	EXON
Amino Acid Prediction:	P to A (nonsynonymous)
Amino Acid Position:	18

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTSGQFKPVPQILMELPAAEQQRLFNEAAAIIRHLEWTDAVQLTALVMGSEALQQQLLAMLVNYVTKELRAEIQYDD*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002708058	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	C19orf12	CLINVAR
OMIM	614297	CLINVAR