RGD:127280846 Rat Genome Database

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Variant: RGD:127280846 -  Homo sapiens

RGD ID: 127280846
RS ID: rs2139898715
ClinVar ID: CV1080549
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNH5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 63,174,520
GRCh38 14 62,707,802
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_172375.3:c.*640G>A
NM_139318.5:c.2673G>A
NG_034062.1:g.342437G>A
NC_000014.9:g.62707802C>T
More... 		10/08/2020 3 prime utr variant likely benign Developmental and epileptic encephalopathy; Early infantile epileptic encephalopathy; Ohtahara syndrome
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNH5
Accession:NM_172375
Location:3UTRS;EXON

Gene Symbol:KCNH5
Accession:NM_139318
Location:EXON
Amino Acid Prediction: Q to Q (synonymous)
Amino Acid Position: 891
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPGGKRGLVAPQNTFLENIVRRSSESSFLLGNAQIVDWPVVYSNDGFCKLSGYHRADVMQKSSTCSFMYGELTDKKTIEK
VRQTFDNYESNCFEVLLYKKNRTPVWFYMQIAPIRNEHEKVVLFLCTFKDITLFKQPIEDDSTKGWTKFARLTRALTNSR
SVLQQLTPMNKTEVVHKHSRLAEVLQLGSDILPQYKQEAPKTPPHIILHYCAFKTTWDWVILILTFYTAIMVPYNVSFKT
KQNNIAWLVLDSVVDVIFLVDIVLNFHTTFVGPGGEVISDPKLIRMNYLKTWFVIDLLSCLPYDIINAFENVDEGISSLF
SSLKVVRLLRLGRVARKLDHYLEYGAAVLVLLVCVFGLVAHWLACIWYSIGDYEVIDEVTNTIQIDSWLYQLALSIGTPY
RYNTSAGIWEGGPSKDSLYVSSLYFTMTSLTTIGFGNIAPTTDVEKMFSVAMMMVGSLLYATIFGNVTTIFQQMYANTNR
YHEMLNNVRDFLKLYQVPKGLSERVMDYIVSTWSMSKGIDTEKVLSICPKDMRADICVHLNRKVFNEHPAFRLASDGCLR
ALAVEFQTIHCAPGDLIYHAGESVDALCFVVSGSLEVIQDDEVVAILGKGDVFGDIFWKETTLAHACANVRALTYCDLHI
IKREALLKVLDFYTAFANSFSRNLTLTCNLRKRIIFRKISDVKKEEEERLRQKNEVTLSIPVDHPVRKLFQKFKQQKELR
NQGSTQGDPERNQLQVESRSLQNGASITGTSVVTVSQITPIQTSLAYVKTSESLKQNNRDAMELKPNGGADQKCLKVNSP
IRMKNGNGKGWLRLKNNMGAHEEKKEDWNNVTKAESMGLLSEDPKSSDSENSVTKNPLRKTDSCDSGITKSDLRLDKAGE
ARSPLEHSPIQADAKHPFYPIPEQALQTTLQEVKHELKEDIQLLSCRMTALEKQVAEILKILSEKSVPQASSPKSQMPLQ
VPPQIPCQDIFSVSRPESPESDKDEIHF*

Gene Symbol:KCNH5
Accession:XM_047431275
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001410081 CLINVAR
dbSNP (RS) rs2139898715 CLINVAR
MedGen C0393706 CLINVAR
NCBI Gene KCNH5 CLINVAR
OMIM 605716 CLINVAR
SNOMED CT 230429005 CLINVAR