RGD:156283765 Rat Genome Database

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Variant: RGD:156283765 -  Homo sapiens

RGD ID: 156283765
ClinVar ID: CV2291846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HAS3  TANGO6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 16 69,117,560
GRCh38 16 69,083,657
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_047056.2:g.5175C>T
NC_000016.10:g.69083657C>T
NC_000016.9:g.69117560C>T
NM_024562.1:c.3281C>T
More... 		09/28/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HAS3
Accession:XM_047434047
Location:5UTRS;EXON

Gene Symbol:TANGO6
Accession:XM_047434634
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 623
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLLPVLGVLFLLYCFTKQSVSHIRSLCQEILLWILGKLERKKAIASLKGFAGLDKAVPSLHSLCQFRVATQGGIMITI
KEAISDEDEDEALYQKVSSEQGRVEHLGDLLSHCQECGLAGDFFIFCLKELTHVASENETELKTEPFSSKSLLELEQHQT
LLVEGQERKLLVLQLMAVLCERMSEQIFTNVTQVVDFVAATLQRACASLAHQAESTVESQTLSMSMGLVAVMLGGAVQLK
SSDFAVLKQLLPLLEKVSNTYPDPVIQELAVDLRITISTHGAFATEAVSMAAQSTLNRKDLEGKIEEQQQTSHERPTDVA
HSHLEQQQSHETAPQTGLQSNAPIIPQGVNEPSTTTSQKSGSVTTEQLQEVLLSAYDPQIPTRAAALRTLSHWIEQREAK
ALEMQEKLLKIFLENLEHEDTFVYLSAIQGVALLSDVYPEKILPDLLAQYDSSKDKHTPETRMKVGEVLMRIVRALGDMV
SKYREPLIHTFLRGVRDPDGAHRASSLANLGELCQRLDFLLGSVVHEVTACLIAVAKTDGEVQVRRAAIHVVVLLLRGLS
QKATEVLSAVLKDLYHLLKHVVCLEPDDVAKLHAQLALEELDDIMKNFLFPPQKLEKKIMVLL*

Gene Symbol:TANGO6
Accession:NM_024562
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 1094
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAARQAVGSGAQETCGLDRILEALKLLLSPGGSGSSSLQVTKHDVLLATLKSNLSALEDKFLKDPQWKNLKLLRDEIADK
AEWPQNSVDVTWSFTSQTLLLLLCLKETMIRLAANFNPGKPNPRTPEVAPALSPDALSISQQKTVQFVLQFVVTLGICPY
LMPGVGVPLRYRTEFGAVVQDVVCFDAAPDATRRLYTSCKALLNVAQHTSLGSLIFCHHFGDIAAGLCQLGFCPTKRKLL
TPAEEVLTEEERTLSRGALRDMLDQVYQPLAVRELLILQGGPPQSCTDVKTQMRCRAPAWLRRLCGQLLSERLMRPNGVQ
AVVRGILEGAGAGAAGGSDAEVTAADWKKCDLIAKILASCPQQSLSPENYYRDICPQVLDLFHFQDKLTARQFQRVATTT
FITLSRERPHLAAKYLLQPVLAPLHRCLNTAELSESDMVPGTILVTEEELSRCIEDVFKVYVVGNEPLTVLMDSLLPVLG
VLFLLYCFTKQSVSHIRSLCQEILLWILGKLERKKAIASLKGFAGLDKAVPSLHSLCQFRVATQGGIMITIKEAISDEDE
DEALYQKVSSEQGRVEHLGDLLSHCQECGLAGDFFIFCLKELTHVASENETELKTEPFSSKSLLELEQHQTLLVEGQERK
LLVLQLMAVLCERMSEQIFTNVTQVVDFVAATLQRACASLAHQAESTVESQTLSMSMGLVAVMLGGAVQLKSSDFAVLKQ
LLPLLEKVSNTYPDPVIQELAVDLRITISTHGAFATEAVSMAAQSTLNRKDLEGKIEEQQQTSHERPTDVAHSHLEQQQS
HETAPQTGLQSNAPIIPQGVNEPSTTTSQKSGSVTTEQLQEVLLSAYDPQIPTRAAALRTLSHWIEQREAKALEMQEKLL
KIFLENLEHEDTFVYLSAIQGVALLSDVYPEKILPDLLAQYDSSKDKHTPETRMKVGEVLMRIVRALGDMVSKYREPLIH
TFLRGVRDPDGAHRASSLANLGELCQRLDFLLGSVVHEVTACLIAVAKTDGEVQVRRAAIHVVVLLLRGLSQKATEVLSA
VLKDLYHLLKHVVCLEPDDVAKLHAQLALEELDDIMKNFLFPPQKLEKKIMVLL*

Gene Symbol:TANGO6
Accession:XM_047434633
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 623
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDSLLPVLGVLFLLYCFTKQSVSHIRSLCQEILLWILGKLERKKAIASLKGFAGLDKAVPSLHSLCQFRVATQGGIMITI
KEAISDEDEDEALYQKVSSEQGRVEHLGDLLSHCQECGLAGDFFIFCLKELTHVASENETELKTEPFSSKSLLELEQHQT
LLVEGQERKLLVLQLMAVLCERMSEQIFTNVTQVVDFVAATLQRACASLAHQAESTVESQTLSMSMGLVAVMLGGAVQLK
SSDFAVLKQLLPLLEKVSNTYPDPVIQELAVDLRITISTHGAFATEAVSMAAQSTLNRKDLEGKIEEQQQTSHERPTDVA
HSHLEQQQSHETAPQTGLQSNAPIIPQGVNEPSTTTSQKSGSVTTEQLQEVLLSAYDPQIPTRAAALRTLSHWIEQREAK
ALEMQEKLLKIFLENLEHEDTFVYLSAIQGVALLSDVYPEKILPDLLAQYDSSKDKHTPETRMKVGEVLMRIVRALGDMV
SKYREPLIHTFLRGVRDPDGAHRASSLANLGELCQRLDFLLGSVVHEVTACLIAVAKTDGEVQVRRAAIHVVVLLLRGLS
QKATEVLSAVLKDLYHLLKHVVCLEPDDVAKLHAQLALEELDDIMKNFLFPPQKLEKKIMVLL*

Gene Symbol:HAS3
Accession:NM_005329
Location:INTRON

Gene Symbol:TANGO6
Accession:XM_047434632
Location:INTRON

Gene Symbol:HAS3
Accession:XM_047434046
Location:INTRON

Gene Symbol:HAS3
Accession:XM_047434045
Location:INTRON

Gene Symbol:HAS3
Accession:NM_138612
Location:INTRON

Gene Symbol:HAS3
Accession:NM_001199280
Location:INTRON

Gene Symbol:HAS3
Accession:XM_005255921
Location:INTRON

Gene Symbol:HAS3
Accession:XM_011523061
Location:INTRON

Gene Symbol:TANGO6
Accession:XM_011523327
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004158374 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HAS3 CLINVAR
  TANGO6 CLINVAR
OMIM 602428 CLINVAR
  620188 CLINVAR