RGD:38482250 Rat Genome Database

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Variant: RGD:38482250 -  Homo sapiens

RGD ID: 38482250
RS ID: rs1926977202
ClinVar ID: CV929529
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: BTK  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 X 100,625,058
GRCh38 X 101,370,070
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.319G>T
LRG_128t1:c.319G>T
NM_000061.3:c.319G>T
NC_000023.10:g.100625058C>A
More... 		05/23/2019 missense variant uncertain significance Agammaglobulinemia and isolated growth hormone deficiency, X-linked; Fleisher syndrome; Growth hormone deficiency with hypogammaglobulinemia; Hypogammaglobulinemia and isolated growth hormone deficiency, X-linked; IGHD III; Isolated growth hormone deficiency type 3; ISOLATED GROWTH HORMONE DEFICIENCY, TYPE III; 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_001287344
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASWSIQQMVIGCPLCGRHCSGGEHTGELQKEEAMAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFER
GRRGSKKGSIDVEKITCVETVVPEKNPPPERQIPRRGEESSEMEQISIIERFPYPFQVVYYEGPLYVFSPTEELRKRWIH
QLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAKNAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEP
AAAPVSTSELKKVVALYDYMPMNANDLQLRKGDEYFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHM
TRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVFAKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNS
AGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPKDLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEA
KVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANGCLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARN
CLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSET
AEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMDEES*

Gene Symbol:BTK
Accession:NM_000061
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIP
RRGEESSEMEQISIIERFPYPFQVVYYEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAK
NAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVF
AKSTGDPQGVIRHYVVCSTPQSQYYLAEKHLFSTIPELINYHQHNSAGLISRLKYPVSQQNKNAPSTAGLGYGSWEIDPK
DLTFLKELGTGQFGVVKYGKWRGQYDVAIKMIKEGSMSEDEFIEEAKVMMNLSHEKLVQLYGVCTKQRPIFIITEYMANG
CLLNYLREMRHRFQTQQLLEMCKDVCEAMEYLESKQFLHRDLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFP
VRWSPPEVLMYSKFSSKSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADE
RPTFKILLSNILDVMDEES*

Gene Symbol:BTK
Accession:NM_001287345
Location:EXON
Amino Acid Prediction: D to Y (nonsynonymous)
Amino Acid Position: 107
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAAVILESIFLKRSQQKKKTSPLNFKKRLFLLTVHKLSYYEYDFERGRRGSKKGSIDVEKITCVETVVPEKNPPPERQIP
RRGEESSEMEQISIIERFPYPFQVVYYEGPLYVFSPTEELRKRWIHQLKNVIRYNSDLVQKYHPCFWIDGQYLCCSQTAK
NAMGCQILENRNGSLKPGSSHRKTKKPLPPTPEEDQILKKPLPPEPAAAPVSTSELKKVVALYDYMPMNANDLQLRKGDE
YFILEESNLPWWRARDKNGQEGYIPSNYVTEAEDSIEMYEWYSKHMTRSQAEQLLKQEGKEGGFIVRDSSKAGKYTVSVF
AKSTGDPQGVIRHYVVCSTPQSQYYLAARNCLVNDQGVVKVSDFGLSRYVLDDEYTSSVGSKFPVRWSPPEVLMYSKFSS
KSDIWAFGVLMWEIYSLGKMPYERFTNSETAEHIAQGLRLYRPHLASEKVYTIMYSCWHEKADERPTFKILLSNILDVMD
EES*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001218381 CLINVAR
dbSNP (RS) rs1926977202 CLINVAR
MedGen C0472813 CLINVAR
NCBI Gene BTK CLINVAR
OMIM 300300 CLINVAR
  307200 CLINVAR
SNOMED CT 234533006 CLINVAR