rs121434424 Rat Genome Database

rs121434424 Rat Genome Database

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Variant: rs121434424 - Homo sapiens

RGD ID:

8597249

RS ID:

rs121434424

ClinVar ID:

CV21788

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	19	18,980,040
GRCh38	19	18,869,231

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_012070.1:g.31914G>A NC_000019.10:g.18869231C>T NC_000019.9:g.18980040C>T NP_001483.3:p.Gly162Asp More...	10/23/2023	3 prime utr variant\|missense\|missense variant	pathogenic\|benign\|likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	antenatal\|neonatal/infancy	1-5 / 10 000	Fallot tetralogy; GDF1-related condition; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV21788	Human	progressive myoclonus epilepsy 8		IAGP		8554872	ClinVar Annotator: match by term: Progressive myoclonic epilepsy type 8	ClinVar	PMID:17924340 and PMID:28492532
CV21788	Human	tetralogy of Fallot		IAGP		8554872	ClinVar Annotator: match by term: Tetralogy of Fallot	ClinVar	PMID:17924340 and PMID:28492532
CV21788	Human	visceral heterotaxy		IAGP		8554872	ClinVar Annotator: match by term: GDF1-related condition	ClinVar	PMID:17924340 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV21788	Human	Tetralogy of Fallot		IAGP		8554872	ClinVar Annotator: match by term: Tetralogy of Fallot	ClinVar	PMID:17924340 and PMID:28492532

Gene Symbol:	CERS1
Accession:	NM_021267
Location:	3UTRS;EXON

Gene Symbol:	CERS1
Accession:	NM_001387440
Location:	3UTRS;EXON

Gene Symbol:	GDF1
Accession:	NM_001387438
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE GVWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:	GDF1
Accession:	NM_001492
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	162

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPPPQQGPCGHHLLLLLALLLPSLPLTRAPVPPGPAAALLQALGLRDEPQGAPRLRPVPPVMWRLFRRRDPQETRSGSRR TSPGVTLQPCHVEELGVAGNIVRHIPDRGAPTRASEPASAAGHCPEWTVVFDLSAVEPAERPSRARLELRFAAAAAAAPE GVWELSVAQAGQGAGADPGPVLLRQLVPALGPPVRAELLGAAWARNASWPRSLRLALALRPRAPAACARLAEASLLLVTL DPRLCHPLARPRRDAEPVLGGGPGGACRARRLYVSFREVGWHRWVIAPRGFLANYCQGQCALPVALSGSGGPPALNHAVL RALMHAAAPGAADLPCCVPARLSPISVLFFDNSDNVVLRQYEDMVVDECGCR*

Gene Symbol:	CERS1
Accession:	NM_001387441
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_198207
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387442
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387445
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001290265
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387443
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387439
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387444
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:17924340	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000007141	CLINVAR
	RCV000180221	CLINVAR
	RCV003924808	CLINVAR
	RCV005089199	CLINVAR
dbSNP (RS)	rs121434424	CLINVAR
MedGen	C0039685	CLINVAR
	C3661900	CLINVAR
	C5190825	CLINVAR
NCBI Gene	CERS1	CLINVAR
	GDF1	CLINVAR
OMIM	187500	CLINVAR
	602880	CLINVAR
	606919	CLINVAR
	616230	CLINVAR
OMIM Allele	602880.0003	CLINVAR
SNOMED CT	86299006	CLINVAR