rs515726204 Rat Genome Database

rs515726204 Rat Genome Database

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Variant: rs515726204 - Homo sapiens

RGD ID:

8591645

RS ID:

rs515726204

ClinVar ID:

CV40112

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

ACAGCCCCCCG

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	19	30,193,865 - 30,193,876
GRCh38	19	29,702,958 - 29,702,969

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NM_001031726.2:c.204_214del NM_001031726.3:c.204_214del11 NP_001026896.2:p.Gly69ArgfsTer10 NC_000019.10:g.29702967_29702977del More...	03/29/2023	5 prime utr variant	pathogenic\|likely pathogenic	adolescent\|childhood	1-9 / 1 000 000	C19orf12-related condition; Hereditary spastic paraplegia 43; MITOCHONDRIAL PROTEIN-ASSOCIATED NEURODEGENERATION; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Spastic paraplegia 43, autosomal recessive

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV40112	Human	hereditary spastic paraplegia 43		IAGP		8554872	ClinVar Annotator: match by term: Hereditary spastic paraplegia 43	ClinVar	PMID:21981780 more ...
CV40112	Human	neurodegeneration with brain iron accumulation		IAGP		8554872	ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation	ClinVar	PMID:21981780 more ...
CV40112	Human	neurodegeneration with brain iron accumulation 4		IAGP		8554872	ClinVar Annotator: match by term: Neurodegeneration with brain iron accumulation 4	ClinVar	PMID:21981780 more ...

Gene Symbol:	C19orf12
Accession:	NM_001282931
Location:	5UTRS;EXON

Gene Symbol:	C19orf12
Accession:	XM_047439497
Location:	5UTRS;EXON

Gene Symbol:	C19orf12
Accession:	NM_001282929
Location:	5UTRS;EXON

Gene Symbol:	C19orf12
Accession:	NM_001282930
Location:	5UTRS;EXON

Gene Symbol:	C19orf12
Accession:	NM_001031726
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	C19orf12
Accession:	XM_047439496
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	114

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

Gene Symbol:	C19orf12
Accession:	NM_001256047
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	C19orf12
Accession:	NM_001256046
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	C19orf12
Accession:	XM_024451735
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	C19orf12
Accession:	NM_031448
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	60

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

Gene Symbol:	C19orf12
Accession:	XM_024451734
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	114

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

ClinVar GRCh37	ClinVar GRCh38

PMID:21981780	PMID:23269600	PMID:23436634	PMID:25741868	PMID:28492532	PMID:28641177	PMID:30392167	PMID:31087512	PMID:33607528

Database	Acc Id	Source(s)
ClinVar	RCV000024151	CLINVAR
	RCV001044832	CLINVAR
	RCV001781311	CLINVAR
	RCV003155040	CLINVAR
	RCV003904862	CLINVAR
	RCV005016293	CLINVAR
dbSNP (RS)	rs515726204	CLINVAR
MedGen	C2680446	CLINVAR
	C2931845	CLINVAR
	C3280371	CLINVAR
	C3661900	CLINVAR
NCBI Gene	C19orf12	CLINVAR
OMIM	614297	CLINVAR
	614298	CLINVAR
	615043	CLINVAR
OMIM Allele	614297.0001	CLINVAR