rs144234059 Rat Genome Database

rs144234059 Rat Genome Database

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Variant: rs144234059 - Homo sapiens

RGD ID:

12854355

RS ID:

rs144234059

ClinVar ID:

CV384519

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MAF WWOX

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	16	79,245,670
GRCh38	16	79,211,773

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_011698.1:g.1117120C>G NC_000016.10:g.79211773C>G NC_000016.9:g.79245670C>G NP_057457.1:p.Arg408Gly More...	07/18/2019	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)
CV384519	Human	developmental and epileptic encephalopathy 1		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy, early infantile, 1	ClinVar	PMID:25741868\|PMID:28492532
CV384519	Human	Developmental Disabilities		IAGP		8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868\|PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV384519	Human	Global developmental delay		IAGP		8554872	ClinVar Annotator: match by term: Global developmental delay	ClinVar	PMID:25741868\|PMID:28492532

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

Gene Symbol:	WWOX
Accession:	NM_016373
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	408

Amino Acid Sequence (Calculated using NCBI transcript definition)
MAALRYAGLDDTDSEDELPPGWEERTTKDGWVYYANHTEEKTQWEHPKTGKRKRVAGDLPYGWEQETDENGQVFFVDHIN KRTTYLDPRLAFTVDDNPTKPTTRQRYDGSTTAMEILQGRDFTGKVVVVTGANSGIGFETAKSFALHGAHVILACRNMAR ASEAVSRILEEWHKAKVEAMTLDLALLRSVQHFAEAFKAKNVPLHVLVCNAATFALPWSLTKDGLETTFQVNHLGHFYLV QLLQDVLCRSAPARVIVVSSESHRFTDINDSLGKLDFSRLSPTKNDYWAMLAYNRSKLCNILFSNELHRRLSPRGVTSNA VHPGNMMYSNIHRSWWVYTLLFTLARPFTKSMQQGAATTVYCAAVPELEGLGGMYFNNCCRCMPSPEAQSEETARTLWAL SERLIQEGLGSQSG*

Gene Symbol:	WWOX
Accession:	NM_001291997
Location:	EXON
Amino Acid Prediction:	R to G (nonsynonymous)
Amino Acid Position:	295

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

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:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000449583	CLINVAR
	RCV001223083	CLINVAR
dbSNP (RS)	rs144234059	CLINVAR
MedGen	C0557874	CLINVAR
	C3463992	CLINVAR
NCBI Gene	MAF	CLINVAR
	WWOX	CLINVAR
OMIM	177075	CLINVAR
	308350	CLINVAR
	605131	CLINVAR
	614322	CLINVAR