rs868026629 Rat Genome Database

rs868026629 Rat Genome Database

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Variant: rs868026629 - Homo sapiens

RGD ID:

151762396

RS ID:

rs868026629

ClinVar ID:

CV1456050

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	19	18,979,929
GRCh38	19	18,869,120

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001387440.1:c.1457T>C NM_021267.5:c.865T>C NM_001387438.1:c.596T>C NM_001492.6:c.596T>C More...	12/15/2021	3 prime utr variant	uncertain significance	Congenital heart defects, multiple types, 6; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1456050	Human	right atrial isomerism		IAGP		8554872	ClinVar Annotator: match by term: Right atrial isomerism	ClinVar	PMID:25741868 and PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1456050	Human	Right atrial isomerism		IAGP		8554872	ClinVar Annotator: match by term: Right atrial isomerism	ClinVar	PMID:25741868 and PMID:28492532

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

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

Gene Symbol:	GDF1
Accession:	NM_001387438
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	199

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

Gene Symbol:	GDF1
Accession:	NM_001492
Location:	EXON
Amino Acid Prediction:	L to R (nonsynonymous)
Amino Acid Position:	199

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

Gene Symbol:	CERS1
Accession:	NM_001387445
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387444
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387443
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387442
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001290265
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387439
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_198207
Location:	INTRON

Gene Symbol:	CERS1
Accession:	NM_001387441
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002503359	CLINVAR
	RCV002545361	CLINVAR
dbSNP (RS)	rs868026629	CLINVAR
MedGen	C3178806	CLINVAR
	C3661900	CLINVAR
NCBI Gene	CERS1	CLINVAR
	GDF1	CLINVAR
OMIM	208530	CLINVAR
	602880	CLINVAR
	606919	CLINVAR
	613854	CLINVAR