rs763482100 Rat Genome Database

rs763482100 Rat Genome Database

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Variant: rs763482100 - Homo sapiens

RGD ID:

151781921

RS ID:

rs763482100

ClinVar ID:

CV1439211

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MAF WWOX

Reference Nucleotide:

G

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	16	79,245,624
GRCh38	16	79,211,727

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_016373.4:c.1176G>T NM_001291997.2:c.837G>T NG_011698.1:g.1117074G>T NC_000016.10:g.79211727G>T More...	09/01/2021	missense variant	uncertain significance	Autosomal recessive spinocerebellar ataxia 12; Epileptic encephalopathy, early infantile, 1; INFANTILE SPASM SYNDROME, X-LINKED 1; OHTAHARA SYNDROME, X-LINKED; SPINOCEREBELLAR ATAXIA WITH MENTAL RETARDATION AND EPILEPSY; Tonic spasms with clustering, arrest of psychomotor development and hypsarrhythmia on EEG; West's syndrome; X-Linked Infantile Spasm Syndrome; X-linked infantile spasms

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1439211	Human	developmental and epileptic encephalopathy 1		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	ClinVar	PMID:28492532

Gene Symbol:	MAF
Accession:	XM_024450279
Location:	3UTRS;EXON

Gene Symbol:	WWOX
Accession:	NM_016373
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	392

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHIN KRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMAR ASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV QLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNA VHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEDTARTLWAL SERLIQERLGSQSG*

Gene Symbol:	WWOX
Accession:	NM_001291997
Location:	EXON
Amino Acid Prediction:	E to D (nonsynonymous)
Amino Acid Position:	279

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMARASEAVSRILEEWHKAKVEAMTLDLALLRSVQHF AEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLVQLLQDVLCRSAPARVIVVSSESHRFTDINDSLG KLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNAVHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQ QGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEDTARTLWALSERLIQERLGSQSG*

Gene Symbol:	MAF
Accession:	XR_001751902
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957804
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957803
Location:	EXON;NON-CODING

Gene Symbol:	MAF
Accession:	XR_002957802
Location:	EXON;NON-CODING

Gene Symbol:	WWOX
Accession:	NM_130791
Location:	INTRON

Gene Symbol:	MAF
Accession:	NM_005360
Location:	INTRON

Gene Symbol:	MAF
Accession:	NM_001031804
Location:	INTRON

Gene Symbol:	MAF
Accession:	XM_017023234
Location:	INTRON

Gene Symbol:	MAF
Accession:	XM_017023235
Location:	INTRON

Gene Symbol:	MAF
Accession:	XM_017023233
Location:	INTRON

Gene Symbol:	WWOX
Accession:	NR_120436
Location:	INTRON;NON-CODING

Gene Symbol:	WWOX
Accession:	NR_120435
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002009820	CLINVAR
dbSNP (RS)	rs763482100	CLINVAR
MedGen	C3463992	CLINVAR
NCBI Gene	MAF	CLINVAR
	WWOX	CLINVAR
OMIM	177075	CLINVAR
	308350	CLINVAR
	605131	CLINVAR
	614322	CLINVAR