RGD:10047930 Rat Genome Database

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Variant: RGD:10047930 -  Homo sapiens

RGD ID: 10047930
RS ID: rs138517537
ClinVar ID: CV191693
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNTNAP2  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 7 147,675,054
GRCh38 7 147,977,962
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NC_000007.14:g.147977962G>T
NC_000007.13:g.147675054G>T
NP_054860.1:p.Val786Leu
NM_014141.6:c.2356G>T
More... 		02/09/2019 missense variant benign|likely benign|conflicting interpretations of pathogenicity <1 / 1 000 000 AllHighlyPenetrant; none provided; Pitt-Hopkins-like syndrome 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CNTNAP2
Accession:NM_014141
Location:EXON
Amino Acid Prediction: V to L (nonsynonymous)
Amino Acid Position: 786
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MQAAPRAGCGAALLLWIVSSCLCRAWTAPSTSQKCDEPLVSGLPHVAFSSSSSISGSYSPGYAKINKRGGAGGWSPSDSD
HYQWLQVDFGNRKQISAIATQGRYSSSDWVTQYRMLYSDTGRNWKPYHQDGNIWAFPGNINSDGVVRHELQHPIIARYVR
IVPLDWNGEGRIGLRIEVYGCSYWADVINFDGHVVLPYRFRNKKMKTLKDVIALNFKTSESEGVILHGEGQQGDYITLEL
KKAKLVLSLNLGSNQLGPIYGHTSVMTGSLLDDHHWHSVVIERQGRSINLTLDRSMQHFRTNGEFDYLDLDYEITFGGIP
FSGKPSSSSRKNFKGCMESINYNGVNITDLARRKKLEPSNVGNLSFSCVEPYTVPVFFNATSYLEVPGRLNQDLFSVSFQ
FRTWNPNGLLVFSHFADNLGNVEIDLTESKVGVHINITQTKMSQIDISSGSGLNDGQWHEVRFLAKENFAILTIDGDEAS
AVRTNSPLQVKTGEKYFFGGFLNQMNNSSHSVLQPSFQGCMQLIQVDDQLVNLYEVAQRKPGSFANVSIDMCAIIDRCVP
NHCEHGGKCSQTWDSFKCTCDETGYSGATCHNSIYEPSCEAYKHLGQTSNYYWIDPDGSGPLGPLKVYCNMTEDKVWTIV
SHDLQMQTPVVGYNPEKYSVTQLVYSASMDQISAITDSAEYCEQYVSYFCKMSRLLNTPDGSPYTWWVGKANEKHYYWGG
SGPGIQKCACGIERNCTDPKYYCNCDADYKQWRKDAGFLSYKDHLPVSQVVVGDTDRQGSEAKLSLGPLRCQGDRNYWNA
ASFPNPSSYLHFSTFQGETSADISFYFKTLTPWGVFLENMGKEDFIKLELKSATEVSFSFDVGNGPVEIVVRSPTPLNDD
QWHRVTAERNVKQASLQVDRLPQQIRKAPTEGHTRLELYSQLFVGGAGGQQGFLGCIRSLRMNGVTLDLEERAKVTSGFI
SGCSGHCTSYGTNCENGGKCLERYHGYSCDCSNTAYDGTFCNKDVGAFFEEGMWLRYNFQAPATNARDSSSRVDNAPDQQ
NSHPDLAQEEIRFSFSTTKAPCILLYISSFTTDFLAVLVKPTGSLQIRYNLGGTREPYNIDVDHRNMANGQPHSVNITRH
EKTIFLKLDHYPSVSYHLPSSSDTLFNSPKSLFLGKVIETGKIDQEIHKYNTPGFTGCLSRVQFNQIAPLKAALRQTNAS
AHVHIQGELVESNCGASPLTLSPMSSATDPWHLDHLDSASADFPYNPGQGQAIRNGVNRNSAIIGGVIAVVIFTILCTLV
FLIRYMFRHKGTYHTNEAKGAESAESADAAIMNNDPNFTETIDESKKEWLI*

Gene Symbol:CNTNAP2
Accession:XM_017011950
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV000174918 CLINVAR
  RCV000283107 CLINVAR
  RCV000347266 CLINVAR
  RCV002444697 CLINVAR
  RCV003430726 CLINVAR
  RCV003937568 CLINVAR
dbSNP (RS) rs138517537 CLINVAR
MedGen C0950123 CLINVAR
  C2750246 CLINVAR
  C3661900 CLINVAR
  C4751168 CLINVAR
  CN169374 CLINVAR
NCBI Gene CNTNAP2 CLINVAR
OMIM 604569 CLINVAR
  610042 CLINVAR