RGD:405760855 Rat Genome Database

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Variant: RGD:405760855 -  Homo sapiens

RGD ID: 405760855
ClinVar ID: CV3314266
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDF2L1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 22 21,998,279
GRCh38 22 21,643,990
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_022044.3:c.481C>T
NC_000022.11:g.21643990C>T
NC_000022.10:g.21998279C>T
NM_022044.2:c.481C>T
More... 		01/29/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SDF2L1
Accession:NM_022044
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 161
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWSAGRGGAAWPVLLGLLLALLVPGGGAAKTGAELVTCGSVLKLLNTHHRVRLHSHDIKYGSGSGQQSVTGVEASDDANS
YWRIRGGSEGGCPRGSPVRCGQAVRLTHVLTGKNLHTHHFPSPLSNNQEVSAFGEDGEGDDLDLWTVRCSGQHWEREAAV
CFQHVGTSVFLSVTGEQYGSPIRGQHEVHGMPSANTHNTWKAMEGIFIKPSVEPSAGHDEL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004455281 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SDF2L1 CLINVAR
OMIM 607551 CLINVAR