RGD:596931399 Rat Genome Database

RGD:596931399 Rat Genome Database

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Variant: RGD:596931399 - Homo sapiens

RGD ID:

596931399

ClinVar ID:

CV3531735

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	19	30,193,803
GRCh38	19	29,702,896

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001031726.4:c.242C>T NM_001256046.3:c.242C>T NM_001256047.2:c.242C>T NM_031448.6:c.242C>T More...	04/14/2024	missense variant	uncertain significance	none provided

Gene Symbol:	C19orf12
Accession:	XM_047439497
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	17

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

Gene Symbol:	C19orf12
Accession:	XM_024451734
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	135

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

Gene Symbol:	C19orf12
Accession:	NM_001031726
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	81

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

Gene Symbol:	C19orf12
Accession:	NM_001256047
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	81

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

Gene Symbol:	C19orf12
Accession:	NM_001282929
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	17

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

Gene Symbol:	C19orf12
Accession:	NM_001256046
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	81

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

Gene Symbol:	C19orf12
Accession:	NM_001282930
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	17

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

Gene Symbol:	C19orf12
Accession:	NM_001282931
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	17

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

Gene Symbol:	C19orf12
Accession:	XM_024451735
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	81

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

Gene Symbol:	C19orf12
Accession:	NM_031448
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	81

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

Gene Symbol:	C19orf12
Accession:	XM_047439496
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	135

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004781297	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	C19orf12	CLINVAR
OMIM	614297	CLINVAR