RGD:11092318 Rat Genome Database

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Variant: RGD:11092318 -  Homo sapiens

RGD ID: 11092318
RS ID: rs149941106
ClinVar ID: CV229480
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LHFPL5  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 35,773,490
GRCh38 6 35,805,713
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_182548.3:c.43C>T
NC_000006.12:g.35805713C>T
NC_000006.11:g.35773490C>T
NP_872354.1:p.His15Tyr
More... 		01/29/2021 missense variant likely benign|uncertain significance AllHighlyPenetrant; Deafness, autosomal recessive 67; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:LHFPL5
Accession:NM_182548
Location:EXON
Amino Acid Prediction: H to Y (nonsynonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVKLLPAQEAAKIYYTNYVRNSRAVGVMWGTLTICFSVLVMALFIQPYWIGDSVNTPQAGYFGLFSYCVGNVLSSELICK
GGPLDFSSIPSRAFKTAMFFVALGMFLIIGSIICFSLFFICNTATVYKICAWMQLAAATGLMIGCLVYPDGWDSSEVRRM
CGEQTGKYTLGHCTIRWAFMLAILSIGDALILSFLAFVLGYRQDKLLPDDYKADGTEEV*
Variant Samples
Additional References at PubMed
PMID:24033266   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000218391 CLINVAR
  RCV000946938 CLINVAR
  RCV001152591 CLINVAR
dbSNP (RS) rs149941106 CLINVAR
MedGen C1853223 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene LHFPL5 CLINVAR
OMIM 609427 CLINVAR
  610265 CLINVAR