RGD:401722311 Rat Genome Database

RGD:401722311 Rat Genome Database

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Variant: RGD:401722311 - Homo sapiens

RGD ID:

401722311

ClinVar ID:

CV2737658

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

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
NP_001269858.1:p.Pro18Ser NP_001269859.1:p.Pro18Ser NP_001269860.1:p.Pro18Ser NP_001026896.3:p.Pro82Ser More...	01/16/2023	missense variant	uncertain significance	none provided

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV003314830	CLINVAR
MedGen	CN517202	CLINVAR
NCBI Gene	C19orf12	CLINVAR
OMIM	614297	CLINVAR