RGD:156184276 Rat Genome Database

RGD:156184276 Rat Genome Database

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Variant: RGD:156184276 - Homo sapiens

RGD ID:

156184276

ClinVar ID:

CV2239161

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	4	46,976,351
GRCh38	4	46,974,334

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001204266.2:c.562G>T NM_001204267.2:c.562G>T NM_000809.4:c.619G>T NG_011809.1:g.24230G>T More...	10/06/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	GABRA4
Accession:	NM_000809
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	207

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVSAKKVPAIALSAGVSFALLRFLCLAVCLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYV TSFGPVSDVEMEYTMDVFFRQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTI LYTMRLTISAECPMRLVDFPMDGHACPLKFGSYAYPKSEMIYTWTKCPEKSVEVPKESSSLVQYDLIGQTVSSETIKSIT GEYIVMTVYFHLRRKMGYFMIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMD WFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDV GNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFG SRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM*

Gene Symbol:	GABRA4
Accession:	NM_001204267
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	188

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQRWFLPRSLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFF RQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDF PMDGHACPLKFGSYAYPKSEMIYTWTKCPEKSVEVPKESSSLVQYDLIGQTVSSETIKSITGITTVLTMTTLSISARHSL PKVSYATAMDWFIAVCFAFVFSALIEFAAVNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRT NALVHSESDVGNRTEVGNHSSKSSTVVQESSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASV GSASTRHVFGSRLQRIKTTVNTIGATGKLSATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVVYLSKDTMEKS ESLM*

Gene Symbol:	GABRA4
Accession:	NM_001204266
Location:	EXON
Amino Acid Prediction:	G to C (nonsynonymous)
Amino Acid Position:	188

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLQRWFLPRSLNESPGQNQKEEKLCTENFTRILDSLLDGYDNRLRPGFGGPVTEVKTDIYVTSFGPVSDVEMEYTMDVFF RQTWIDKRLKYDGPIEILRLNNMMVTKVWTPDTFFRNGKKSVSHNMTAPNKLFRIMRNGTILYTMRLTISAECPMRLVDF PMDGHACPLKFGSYAYPKSEMIYTWTKCPEKSVEVPKESSSLVQYDLIGQTVSSETIKSITGEYIVMTVYFHLRRKMGYF MIQTYIPCIMTVILSQVSFWINKESVPARTVFGITTVLTMTTLSISARHSLPKVSYATAMDWFIAVCFAFVFSALIEFAA VNYFTNIQMEKAKRKTSKPPQEVPAAPVQREKHPEAPLQNTNANLNMRKRTNALVHSESDVGNRTEVGNHSSKSSTVVQE SSKGTPRSYLASSPNPFSRANAAETISAARALPSASPTSIRTGYMPRKASVGSASTRHVFGSRLQRIKTTVNTIGATGKL SATPPPSAPPPSGSGTSKIDKYARILFPVTFGAFNMVYWVVYLSKDTMEKSESLM*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004112149	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	GABRA4	CLINVAR
OMIM	137141	CLINVAR