RGD:405661537 Rat Genome Database

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Variant: RGD:405661537 -  Homo sapiens

RGD ID: 405661537
ClinVar ID: CV3300901
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CHI3L1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 203,153,714
GRCh38 1 203,184,586
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001276.4:c.304G>T
NG_013056.2:g.7118G>T
NG_013056.1:g.7209G>T
NC_000001.11:g.203184586C>A
More...
02/06/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CHI3L1
Accession:XM_047442841
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRADFGPRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLI
KEMKAEFIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQHLDFISIMTYDFHGAWRGTTGHHSPLFRGQEDASPDRF
SNTICDFLRGATVHRILGQQVPYATKGNQWVGYDDQESVKSKVGFPKATPQDKEKEGGPAPSSQIPVPCTEVWAGLTEHM
CPVHTLGQGTQPCSSGPPLPGAVPEGQAAGGRHGMGPGPG*

Gene Symbol:CHI3L1
Accession:NM_001276
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLIKEMKAE
FIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQHLDFISIMTYDFHGAWRGTTGHHSPLFRGQEDASPDRFSNTDYA
VGYMLRLGAPASKLVMGIPTFGRSFTLASSETGVGAPISGPGIPGRFTKEAGTLAYYEICDFLRGATVHRILGQQVPYAT
KGNQWVGYDDQESVKSKVQYLKDRQLAGAMVWALDLDDFQGSFCGQDLRFPLTNAIKDALAAT*

Gene Symbol:CHI3L1
Accession:XM_047442873
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRADFGPRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLI
KEMKAEFIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQPPPFLLAPRLILTPPLMPVRNKEQPSSLISPESRAMGL
GKPRSKEQRLFKMTSELSLGSQGGVNSVLN*

Gene Symbol:CHI3L1
Accession:XM_047442879
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLIKEMKAE
FIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQPPPFLLAPRLILTPPLMPVRNKEQPSSLISPESRAMGLGKPRSK
EQRLFKMTSELSLGSQGGVNSVLN*

Gene Symbol:CHI3L1
Accession:XM_047442846
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLIKEMKAE
FIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQHLDFISIMTYDFHGAWRGTTGHHSPLFRGQEDASPDRFSNTICD
FLRGATVHRILGQQVPYATKGNQWVGYDDQESVKSKVGFPKATPQDKEKEGGPAPSSQIPVPCTEVWAGLTEHMCPVHTL
GQGTQPCSSGPPLPGAVPEGQAAGGRHGMGPGPG*

Gene Symbol:CHI3L1
Accession:XM_047442848
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLIKEMKAE
FIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQHLDFISIMTYDFHGAWRGTTGHHSPLFRGQEDASPDRFSNTICD
FLRGATVHRILGQQVPYATKGNQWVGYDDQESVKSKVQYLKDRQLAGAMVWALDLDDFQGSFCGQDLRFPLTNAIKDALA
AT*

Gene Symbol:CHI3L1
Accession:XM_047442847
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRADFGPRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLI
KEMKAEFIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQHLDFISIMTYDFHGAWRGTTGHHSPLFRGQEDASPDRF
SNTICDFLRGATVHRILGQQVPYATKGNQWVGYDDQESVKSKVQYLKDRQLAGAMVWALDLDDFQGSFCGQDLRFPLTNA
IKDALAAT*

Gene Symbol:CHI3L1
Accession:XM_047442840
Location:EXON
Amino Acid Prediction: G to W (nonsynonymous)
Amino Acid Position: 102
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGVKASQTGFVVLVLLQCCSAYKLVCYYTSWSQYREGDGSCFPDALDRFLCTHIIYSFANISNDHIDTWEWNDVTLYGML
NTLKNRNPNLKTLLSVGGWNFWSQRADFGPRFSKIASNTQSRRTFIKSVPPFLRTHGFDGLDLAWLYPGRRDKQHFTTLI
KEMKAEFIKEAQPGKKQLLLSAALSAGKVTIDSSYDIAKISQHLDFISIMTYDFHGAWRGTTGHHSPLFRGQEDASPDRF
SNTDYAVGYMLRLGAPASKLVMGIPTFGRSFTLASSETGVGAPISGPGIPGRFTKEAGTLAYYEICDFLRGATVHRILGQ
QVPYATKGNQWVGYDDQESVKSKVQYLKDRQLAGAMVWALDLDDFQGSFCGQDLRFPLTNAIKDALAAT*

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004439204 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CHI3L1 CLINVAR
OMIM 601525 CLINVAR