rs778355384 Rat Genome Database

rs778355384 Rat Genome Database

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Variant: rs778355384 - Homo sapiens

RGD ID:

152985335

RS ID:

rs778355384

ClinVar ID:

CV1674719

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	30,193,644
GRCh38	19	29,702,737

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001256046.3:c.*22G>A NM_001282929.1:c.209G>A NM_001282930.3:c.209G>A NM_001282931.3:c.209G>A More...	11/28/2022	3 prime utr variant	uncertain significance	Hereditary spastic paraplegia 43; MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION; Spastic paraplegia 43, autosomal recessive

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1674719	Human	hereditary spastic paraplegia 43		IAGP		8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 43	ClinVar	PMID:25741868 and PMID:28492532
CV1674719	Human	neurodegeneration with brain iron accumulation 4		IAGP		8554872	ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	C19orf12
Accession:	NM_001256046
Location:	3UTRS;EXON

Gene Symbol:	C19orf12
Accession:	XM_024451734
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	188

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ LTALVMGSEALQQQLLAMLVNYVTKELQAEIQYDD*

Gene Symbol:	C19orf12
Accession:	XM_024451735
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	134

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

Gene Symbol:	C19orf12
Accession:	NM_001282930
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	70

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

Gene Symbol:	C19orf12
Accession:	NM_001282929
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	70

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

Gene Symbol:	C19orf12
Accession:	NM_031448
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	134

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

Gene Symbol:	C19orf12
Accession:	NM_001031726
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	134

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

Gene Symbol:	C19orf12
Accession:	XM_047439496
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	188

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPHAGTSRSLLGFVCRAFPGPVQRPLMPEGSDHLPRDEPAEHVAGLLLNLSPATMTIMVEDIMKLLCSLSGERKMKAAVK HSGKGALVTGAMAFVGGLVGGPPGLAVGGAVGGLLGAWMTSGQFKPVPQILMELPPAEQQRLFNEAAAIIRHLEWTDAVQ LTALVMGSEALQQQLLAMLVNYVTKELQAEIQYDD*

Gene Symbol:	C19orf12
Accession:	NM_001256047
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	134

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

Gene Symbol:	C19orf12
Accession:	XM_047439497
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	70

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

Gene Symbol:	C19orf12
Accession:	NM_001282931
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	70

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

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002239974	CLINVAR
	RCV005017160	CLINVAR
dbSNP (RS)	rs778355384	CLINVAR
MedGen	C2680446	CLINVAR
	C3280371	CLINVAR
NCBI Gene	C19orf12	CLINVAR
OMIM	614297	CLINVAR
	614298	CLINVAR
	615043	CLINVAR