RGD:9687827 Rat Genome Database

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Variant: RGD:9687827 -  Homo sapiens

RGD ID: 9687827
RS ID: rs139835231
ClinVar ID: CV172588
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: KCNQ4  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 41,303,409
GRCh38 1 40,837,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.40837737C>G
NC_000001.10:g.41303409C>G
NP_004691.2:p.Asp606Glu
NM_172163.3:c.1656C>G
More... 		12/31/2019 missense variant benign|likely benign AllHighlyPenetrant; Autosomal dominant nonsyndromic deafness 2A; Deafness, autosomal dominant 2A; DFNA 2 Nonsyndromic Hearing Loss; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:KCNQ4
Accession:NM_004700
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 606
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPGPGSGSGSACGQRSSAAHKRY
RRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLSTIQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRY
RGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLAAGFALLGISFFALPAGILGS
GFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVR
RAPVPDGAPSRYPPVATCHRPGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQ
KSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRILKFLVAKRKFKETLRPYDVKD
VIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKGDKGPSEAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFY
SRCLRSGTSASLGAVQVPLFDPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD*

Gene Symbol:KCNQ4
Accession:NM_172163
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 552
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPGPGSGSGSACGQRSSAAHKRY
RRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLSTIQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRY
RGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLAAGFALLGISFFALPAGILGS
GFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPSFSSRMGIKDRIRMGSSQRRTGPSKQ
HLAPPTMPTSPSSEQVGEATSPTKVQKSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVI
RSIRILKFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSLQTRVDQIVGRGPGDRKAREKGDKGPSEAEVVDEIS
MMGRVVKVEKQVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPLFDPDITSDYHSPVDHEDISVSAQTLSISRSVSTNM
D*

Gene Symbol:KCNQ4
Accession:XM_047434057
Location:EXON
Amino Acid Prediction: T to R (nonsynonymous)
Amino Acid Position: 679
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEAPPRRLGLGPPPGDAPRAELVALTAVQSEQGEAGGGGSPRRLGLLGSPLPPGAPLPGPGSGSGSACGQRSSAAHKRY
RRLQNWVYNVLERPRGWAFVYHVFIFLLVFSCLVLSVLSTIQEHQELANECLLILEFVMIVVFGLEYIVRVWSAGCCCRY
RGWQGRFRFARKPFCVIDFIVFVASVAVIAAGTQGNIFATSALRSMRFLQILRMVRMDRRGGTWKLLGSVVYAHSKELIT
AWYIGFLVLIFASFLVYLAEKDANSDFSSYADSLWWGTITLTTIGYGDKTPHTWLGRVLAAGFALLGISFFALPAGILGS
GFALKVQEQHRQKHFEKRRMPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVR
RAPVPDGAPSRYPPVATCHRPGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQ
KSWSFNDRTRFRASLRLKPRTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRILKFLVAKRKFKETLRPYDVKD
VIEQYSAGHLDMLGRIKSLQTRFVCGAFAWPVENHQSRGQSLHPQLSLHLAGQWPLPSDCLSPRGAFSFIRQPIILVEGR
DGVSPGPLMVPLPLGWTKLWVGGPGTGRPGRRATRGPPRRRWWMKSA*

Gene Symbol:KCNQ4
Accession:XM_017002792
Location:EXON
Amino Acid Prediction: D to E (nonsynonymous)
Amino Acid Position: 267
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPAANLIQAAWRLYSTDMSRAYLTATWYYYDSILPSFRELALLFEHVQRARNGGLRPLEVRRAPVPDGAPSRYPPVATCH
RPGSTSFCPGESSRMGIKDRIRMGSSQRRTGPSKQHLAPPTMPTSPSSEQVGEATSPTKVQKSWSFNDRTRFRASLRLKP
RTSAEDAPSEEVAEEKSYQCELTVDDIMPAVKTVIRSIRILKFLVAKRKFKETLRPYDVKDVIEQYSAGHLDMLGRIKSL
QTRVDQIVGRGPGDRKAREKGDKGPSEAEVVDEISMMGRVVKVEKQVQSIEHKLDLLLGFYSRCLRSGTSASLGAVQVPL
FDPDITSDYHSPVDHEDISVSAQTLSISRSVSTNMD*

Gene Symbol:KCNQ4
Accession:XR_007064876
Location:EXON;NON-CODING

Gene Symbol:KCNQ4
Accession:XR_007064877
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:24033266   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000150882 CLINVAR
  RCV000884280 CLINVAR
  RCV003445565 CLINVAR
dbSNP (RS) rs139835231 CLINVAR
MedGen C2677637 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene KCNQ4 CLINVAR
OMIM 600101 CLINVAR
  603537 CLINVAR