RGD:38493614 Rat Genome Database

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Variant: RGD:38493614 -  Homo sapiens

RGD ID: 38493614
RS ID: rs745644667
ClinVar ID: CV926301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATL3  LOC126861231  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 63,398,913
GRCh38 11 63,631,441
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001290048.2:c.1084C>A
NM_015459.5:c.1138C>A
NG_033985.1:g.45534C>A
NC_000011.10:g.63631441G>T
More... 		06/05/2019 missense variant uncertain significance Hereditary sensory neuropathy type IF; HSN IF
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATL3
Accession:NM_015459
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 380
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSPQRVAAAASRGADDAMESSKPGPVQVVLVQKDQHSFELDEKALASILLQDHIRDLDVVVVSVAGAFRKGKSFILDFM
LRYLYSQKESGHSNWLGDPEEPLTGFSWRGGSDPETTGIQIWSEVFTVEKPGGKKVAVVLMDTQGAFDSQSTVKDCATIF
ALSTMTSSVQIYNLSQNIQEDDLQQLQLFTEYGRLAMDEIFQKPFQTLMFLVRDWSFPYEYSYGLQGGMAFLDKRLQVKE
HQHEEIQNVRNHIHSCFSDVTCFLLPHPGLQVATSPDFDGKLKDIAGEFKEQLQALIPYVLNPSKLMEKEINGSKVTCRG
LLEYFKAYIKIYQGEDLPHPKSMLQATAEANNLAAAASAKDIYYNNMEEVCGGEKPYLSTDILEEKHCEFKQLALDHFKK
TKKMGGKDFSFRYQQELEEEIKELYENFCKHNGSKNVFSTFRTPAVLFTGIVALYIASGLTGFIGLEVVAQLFNCMVGLL
LIALLTWGYIRYSGQYRELGGAIDFGAAYVLEQASSHIGNSTQATVRDAVVGRPSMDKKAQ*

Gene Symbol:ATL3
Accession:XM_006718493
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 361
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLSPQRVAAAASRGADDAMESSKPGPVQVVLVQKDQHSFELDEKALASILLQDHIRDLDVVVVSVAGAFRKGKSFILDFM
LRYLYSQKESGHSNWLGDPEEPLTGFSWRGGSDPETTGIQIWSEVFTVEKPGGKKVAVVLMDTQGAFDSQSTVKDCATIF
ALSTMTSSVQIYNLSQNIQEDDLQQLQTLMFLVRDWSFPYEYSYGLQGGMAFLDKRLQVKEHQHEEIQNVRNHIHSCFSD
VTCFLLPHPGLQVATSPDFDGKLKDIAGEFKEQLQALIPYVLNPSKLMEKEINGSKVTCRGLLEYFKAYIKIYQGEDLPH
PKSMLQATAEANNLAAAASAKDIYYNNMEEVCGGEKPYLSTDILEEKHCEFKQLALDHFKKTKKMGGKDFSFRYQQELEE
EIKELYENFCKHNGSKNVFSTFRTPAVLFTGIVALYIASGLTGFIGLEVVAQLFNCMVGLLLIALLTWGYIRYSGQYREL
GGAIDFGAAYVLEQASSHIGNSTQATVRDAVVGRPSMDKKAQ*

Gene Symbol:ATL3
Accession:NM_001290048
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 362
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MESSKPGPVQVVLVQKDQHSFELDEKALASILLQDHIRDLDVVVVSVAGAFRKGKSFILDFMLRYLYSQKESGHSNWLGD
PEEPLTGFSWRGGSDPETTGIQIWSEVFTVEKPGGKKVAVVLMDTQGAFDSQSTVKDCATIFALSTMTSSVQIYNLSQNI
QEDDLQQLQLFTEYGRLAMDEIFQKPFQTLMFLVRDWSFPYEYSYGLQGGMAFLDKRLQVKEHQHEEIQNVRNHIHSCFS
DVTCFLLPHPGLQVATSPDFDGKLKDIAGEFKEQLQALIPYVLNPSKLMEKEINGSKVTCRGLLEYFKAYIKIYQGEDLP
HPKSMLQATAEANNLAAAASAKDIYYNNMEEVCGGEKPYLSTDILEEKHCEFKQLALDHFKKTKKMGGKDFSFRYQQELE
EEIKELYENFCKHNGSKNVFSTFRTPAVLFTGIVALYIASGLTGFIGLEVVAQLFNCMVGLLLIALLTWGYIRYSGQYRE
LGGAIDFGAAYVLEQASSHIGNSTQATVRDAVVGRPSMDKKAQ*

Gene Symbol:ATL3
Accession:XM_047426725
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 432
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRTAGRDPVSAGLQFPKDGSTQRPANRARFVPARTRPSPLHPCCFCFEGGGSMLSPQRVAAAASRGADDAMESSKPGPVQ
VVLVQKDQHSFELDEKALASILLQDHIRDLDVVVVSVAGAFRKGKSFILDFMLRYLYSQKESGHSNWLGDPEEPLTGFSW
RGGSDPETTGIQIWSEVFTVEKPGGKKVAVVLMDTQGAFDSQSTVKDCATIFALSTMTSSVQIYNLSQNIQEDDLQQLQL
FTEYGRLAMDEIFQKPFQTLMFLVRDWSFPYEYSYGLQGGMAFLDKRLQVKEHQHEEIQNVRNHIHSCFSDVTCFLLPHP
GLQVATSPDFDGKLKDIAGEFKEQLQALIPYVLNPSKLMEKEINGSKVTCRGLLEYFKAYIKIYQGEDLPHPKSMLQATA
EANNLAAAASAKDIYYNNMEEVCGGEKPYLSTDILEEKHCEFKQLALDHFKKTKKMGGKDFSFRYQQELEEEIKELYENF
CKHNGSKNVFSTFRTPAVLFTGIVALYIASGLTGFIGLEVVAQLFNCMVGLLLIALLTWGYIRYSGQYRELGGAIDFGAA
YVLEQASSHIGNSTQATVRDAVVGRPSMDKKAQ*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001224380 CLINVAR
dbSNP (RS) rs745644667 CLINVAR
MedGen C3810194 CLINVAR
NCBI Gene ATL3 CLINVAR
  LOC126861231 CLINVAR
OMIM 609369 CLINVAR
  615632 CLINVAR