RGD:156213300 Rat Genome Database

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:

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

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

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2114609	Human	hereditary spastic paraplegia 43		IAGP		8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 43	ClinVar	PMID:28492532

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:	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:	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:	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:	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:	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:	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:	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:	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_001256046
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

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