RGD:15099073 Rat Genome Database

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Variant: RGD:15099073 -  Homo sapiens

RGD ID: 15099073
RS ID: rs144079566
ClinVar ID: CV758201
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 100,611,869
GRCh38 X 101,356,881
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001287345.2:c.1038+1493T>C
NM_001287344.2:c.1354T>C
NM_000061.3:c.1252T>C
NG_009616.1:g.34344T>C
More... 		05/28/2019 intron variant likely risk allele|benign|likely benign Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Agammaglobulinemia, Bruton tyrosine kinase; Agammaglobulinemia, BTK; AGAMMAGLOBULINEMIA, X-LINKED, TYPE 1; AllHighlyPenetrant; Bruton's agammaglobulinemia; Bruton-type agammaglobulinemia; BTK-deficiency; Common variable agammaglobulinemia; Common variable hypogamma-globulinemia; 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:BTK
Accession:NM_000061
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 418
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIP
RRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAK
NAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVF
AKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPK
DLTFLKELGTGQFGVVKHGKWRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANG
CLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFP
VRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADE
RPTFKILLSNILDVMDEES*

Gene Symbol:BTK
Accession:NM_001287344
Location:EXON
Amino Acid Prediction: Y to H (nonsynonymous)
Amino Acid Position: 452
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASWSIQQMVIGCPLCGRHCSGGEHTGELQKEEAMAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFER
GRRGSKKGSIDVEKITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYDEGPLYVFSPTEELRKRWIH
QLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEP
AAAPVSTSELKKVVALYDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHM
TRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNS
AGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKHGKWRGQYDVAIKMIKEGSMSEDEFIEEA
KVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARN
CLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSET
AEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES*

Gene Symbol:BTK
Accession:NM_001287345
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11472359   PMID:18241230   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000914387 CLINVAR
  RCV000990917 CLINVAR
  RCV001818852 CLINVAR
  RCV003768811 CLINVAR
  RCV003902932 CLINVAR
dbSNP (RS) rs144079566 CLINVAR
MedGen C0009447 CLINVAR
  C0221026 CLINVAR
  C0472813 CLINVAR
  CN169374 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  300755 CLINVAR
  307200 CLINVAR
SNOMED CT 191010004 CLINVAR
  234533006 CLINVAR
  65880007 CLINVAR