RGD:156086795 Rat Genome Database

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Variant: RGD:156086795 -  Homo sapiens

RGD ID: 156086795
ClinVar ID: CV2366318
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SDF2L1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 21,998,310
GRCh38 22 21,644,021
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.512T>C
NP_071327.2:p.Leu171Pro
NC_000022.11:g.21644021T>C
NC_000022.10:g.21998310T>C
More... 		09/09/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SDF2L1
Accession:NM_022044
Location:EXON
Amino Acid Prediction: L to P (nonsynonymous)
Amino Acid Position: 171
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWSAGRGGAAWPVLLGLLLALLVPGGGAAKTGAELVTCGSVLKLLNTHHRVRLHSHDIKYGSGSGQQSVTGVEASDDANS
YWRIRGGSEGGCPRGSPVRCGQAVRLTHVLTGKNLHTHHFPSPLSNNQEVSAFGEDGEGDDLDLWTVRCSGQHWEREAAV
RFQHVGTSVFPSVTGEQYGSPIRGQHEVHGMPSANTHNTWKAMEGIFIKPSVEPSAGHDEL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004210330 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SDF2L1 CLINVAR
OMIM 607551 CLINVAR