RGD:11660577 Rat Genome Database

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Variant: RGD:11660577 -  Homo sapiens

RGD ID: 11660577
RS ID: rs886061344
ClinVar ID: CV299969
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHFPL5  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 35,773,653
GRCh38 6 35,805,876
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000006.12:g.35805876T>C
NC_000006.11:g.35773653T>C
NP_872354.1:p.Val69Ala
NM_182548.4:c.206T>C
More... 		06/14/2016 missense variant uncertain significance Deafness, autosomal recessive 67
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LHFPL5
Accession:NM_182548
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKLLPAQEAAKIYHTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAGYFGLFSYCAGNVLSSELICK
GGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFICNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRM
CGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000368236 CLINVAR
dbSNP (RS) rs886061344 CLINVAR
MedGen C1853223 CLINVAR
NCBI Gene LHFPL5 CLINVAR
OMIM 609427 CLINVAR
  610265 CLINVAR