RGD:38479063 Rat Genome Database

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Variant: RGD:38479063 -  Homo sapiens

RGD ID: 38479063
RS ID: rs2073967346
ClinVar ID: CV951622
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: FHL1  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 X 135,292,158
GRCh38 X 136,209,999
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001159702.3:c.*45T>G
NM_001159703.2:c.*45T>G
NM_001330659.2:c.*45T>G
NM_001369326.1:c.*45T>G
More... 		09/10/2019 3 prime utr variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FHL1
Accession:XM_024452354
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:NM_001159703
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:XM_006724746
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:NM_001369327
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:NM_001369326
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:NM_001369328
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:NM_001159702
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:XM_047441925
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:XM_006724743
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:XM_047441926
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:NM_001330659
Location:3UTRS;EXON

Gene Symbol:FHL1
Accession:NM_001159699
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 289
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHRHSGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDT
CFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPK
GEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGC
KNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001369329
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001369330
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001159700
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001449
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001167819
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001159704
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:XM_047441927
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001159701
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 302
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTFYVASLALELIWMLSSPAGPSSYKVGTMAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADS
KEVHYKNRFWHDTCFRCAKCLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSN
CKQVIGTGSFFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVD
CYKNFVAKKCAGCKNPITGFGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NM_001369331
Location:EXON
Amino Acid Prediction: C to G (nonsynonymous)
Amino Acid Position: 273
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAKCLHPLANETF
VAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGSFFPKGEDFYCVTCHETKFAK
HCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCVDCYKNFVAKKCAGCKNPITGFGKGSSVVAY
EGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYGPDCAKKL*

Gene Symbol:FHL1
Accession:NR_027621
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001234158 CLINVAR
dbSNP (RS) rs2073967346 CLINVAR
MedGen C2678055 CLINVAR
NCBI Gene FHL1 CLINVAR
OMIM 300163 CLINVAR
  300696 CLINVAR