RGD:8562410 Rat Genome Database

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Variant: RGD:8562410 -  Homo sapiens

RGD ID: 8562410
RS ID: rs128621194
ClinVar ID: CV26405
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 100,614,313
GRCh38 X 101,359,325
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_128:g.31900C>T
NG_009616.1:g.31900C>T
NC_000023.11:g.101359325G>A
NC_000023.10:g.100614313G>A
More... 		01/26/2020 missense|missense variant pathogenic|likely pathogenic 1-9 / 1 000 000 Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Agammaglobulinemia, Bruton tyrosine kinase; Agammaglobulinemia, BTK; AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; Bruton's agammaglobulinemia; Bruton-type agammaglobulinemia; BTK-deficiency; Fleisher syndrome; Growth hormone deficiency with hypogammaglobulinemia; Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked; IGHD III; IMMUNODEFICIENCY 1; Isolated growth hormone deficiency type 3; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III, WITH AGAMMAGLOBULINEMIA; none provided; X-linked agammaglobulinemia with growth hormone deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BTK
Accession:NM_001287344
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASWSIQQMVIGCPLCGRHCSGGEHTGELQKEEAMAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFER
GRRGSKKGSIDVEKITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIH
QLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEP
AAAPVSTSELKKVVALYDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHM
TWSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNS
AGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEA
KVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARN
CLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSET
AEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES*

Gene Symbol:BTK
Accession:NM_000061
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIP
RRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAK
NAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTWSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVF
AKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPK
DLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANG
CLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFP
VRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADE
RPTFKILLSNILDVMDEES*

Gene Symbol:BTK
Accession:NM_001287345
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 288
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIP
RRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAK
NAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTWSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVF
AKSTGDPQGVIRHYVVCSTPQSQYYLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSS
KSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMD
EES*
Variant Samples
Additional References at PubMed
PMID:7678697   PMID:9545398   PMID:11206059   PMID:12217331   PMID:14974089   PMID:15112668   PMID:15661032   PMID:17765309   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000012119 CLINVAR
  RCV000768159 CLINVAR
  RCV001384086 CLINVAR
  RCV001701564 CLINVAR
dbSNP (RS) rs128621194 CLINVAR
MedGen C0221026 CLINVAR
  C0472813 CLINVAR
  C3661900 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  300755 CLINVAR
  307200 CLINVAR
OMIM Allele 300300.0025 CLINVAR
SNOMED CT 234533006 CLINVAR
  65880007 CLINVAR