RGD:28885431 Rat Genome Database

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Variant: RGD:28885431 -  Homo sapiens

RGD ID: 28885431
RS ID: rs935337985
ClinVar ID: CV901076
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LURAP1L-AS1  TYRP1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 12,709,377
GRCh38 9 12,709,377
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000550.3:c.*195C>T
NG_011705.1:g.20992C>T
NM_000550.2:c.*195C>T
NC_000009.11:g.12709377C>T
More... 		01/12/2018 3 prime utr variant uncertain significance Albinism 3; ALBINISM III; Albinism, oculocutaneous, type III; Rufous albinism; Rufous OCA; Rufous oculocutaneous albinism; Xanthism
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:TYRP1
Accession:NM_000550
Location:3UTRS;EXON

Gene Symbol:TYRP1
Accession:XM_047423841
Location:INTRON

Gene Symbol:LURAP1L-AS1
Accession:NR_125775
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001168772 CLINVAR
dbSNP (RS) rs935337985 CLINVAR
MedGen C0342683 CLINVAR
NCBI Gene LURAP1L-AS1 CLINVAR
  TYRP1 CLINVAR
OMIM 115501 CLINVAR
  203290 CLINVAR
SNOMED CT 63450009 CLINVAR