rs1294212392 Rat Genome Database

rs1294212392 Rat Genome Database

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Variant: rs1294212392 - Homo sapiens

RGD ID:

38461941

RS ID:

rs1294212392

ClinVar ID:

CV918995

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GJA1 LOC127407154

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	6	121,768,955
GRCh38	6	121,447,809

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000165.4:c.962G>T NC_000006.11:g.121768955G>T NP_000156.1:p.Gly321Val NC_000006.12:g.121447809G>T More...	11/29/2023	missense variant	uncertain significance	Atrioventricular septal defect 3; GJA1-related condition; OCULODENTOOSSEOUS DYSPLASIA, AUTOSOMAL RECESSIVE; ODDD, AUTOSOMAL RECESSIVE; ODOD, AUTOSOMAL RECESSIVE

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV918995	Human	Atrioventricular Septal Defect 3		IAGP		8554872	ClinVar Annotator: match by term: Atrioventricular septal defect 3	ClinVar	PMID:25741868 more ...
CV918995	Human	Atrioventricular Septal Defect and Common Atrioventricular Junction		IAGP		8554872	ClinVar Annotator: match by term: Atrioventricular septal defect and common atrioventricular junction	ClinVar	PMID:25741868 more ...
CV918995	Human	Oculodentodigital Dysplasia, Autosomal Recessive		IAGP		8554872	ClinVar Annotator: match by term: Oculodentodigital dysplasia and autosomal recessive	ClinVar	PMID:25741868 more ...

Gene Symbol:	GJA1
Accession:	NM_000165
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	321

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGDWSALGKLLDKVQAYSTAGGKVWLSVLFIFRILLLGTAVESAWGDEQSAFRCNTQQPGCENVCYDKSFPISHVRFWVL QIIFVSVPTLLYLAHVFYVMRKEEKLNKKEEELKVAQTDGVNVDMHLKQIEIKKFKYGIEEHGKVKMRGGLLRTYIISIL FKSIFEVAFLLIQWYIYGFSLSAVYTCKRDPCPHQVDCFLSRPTEKTIFIIFMLVVSLVSLALNIIELFYVFFKGVKDRV KGKSDPYHATSGALSPAKDCGSQKYAYFNGCSSPTAPLSPMSPPGYKLVTGDRNNSSCRNYNKQASEQNWANYSAEQNRM VQAGSTISNSHAQPFDFPDDNQNSKKLAAGHELQPLAIVDQRPSSRASSRASSRPRPDDLEI*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532	PMID:30653986

Database	Acc Id	Source(s)
ClinVar	RCV001198046	CLINVAR
	RCV001863119	CLINVAR
	RCV003918773	CLINVAR
dbSNP (RS)	rs1294212392	CLINVAR
MedGen	C0344783	CLINVAR
	C2749477	CLINVAR
NCBI Gene	GJA1	CLINVAR
OMIM	121014	CLINVAR
	257850	CLINVAR
SNOMED CT	253414002	CLINVAR