rs150221689 Rat Genome Database

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Variant: rs150221689 -  Homo sapiens

RGD ID: 8624257
RS ID: rs150221689
ClinVar ID: CV79365
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ABCB6  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 220,082,504
GRCh38 2 219,217,782
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
NG_032110.1:g.6209G>A
NC_000002.12:g.219217782C>T
NC_000002.11:g.220082504C>T
NP_005680.1:p.Arg192Gln
More... 		01/22/2024 intron variant|missense variant benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance 1-5 / 10 000 ABCB6-related condition; Acute Porphyria; Erythropoietic Protoporphyria, Autosomal Recessive; Ferrochelatase deficiency; Heme synthetase deficiency; HMBS deficiency; Hydroxymethylbilane Synthase Deficiency; MICROPHTHALMIA/COLOBOMA 7; none provided; ocular coloboma; Porphobilinogen deaminase deficiency; Porphyria, South African type; Porphyria, Swedish type; PPOX deficiency; Protoporphyrinogen oxidase deficiency; UPS deficiency; Uroporphyrinogen synthase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Coloboma  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:ABCB6
Accession:NM_005689
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 192
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVTVGNYCEAEGPVGPAWMQDGLSPCFFFTLVPSTRMALGTLALVLALPCRRRERPAGADSLSWGAGPRISPYVLQLLLA
TLQAALPLAGLAGRVGTARGAPLPSYLLLASVLESLAGACGLWLLVVERSQARQRLAMGIWIKFRHSPGLLLLWTVAFAA
ENLALVSWNSPQWWWARADLGQQVQFSLWVLQYVVSGGLFVLGLWAPGLRPQSYTLQVHEEDQDVERSQVRSAAQQSTWR
DFGRKLRLLSGYLWPRGSPALQLVVLICLGLMGLERALNVLVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLKFLQGGGT
GSTGFVSNLRTFLWIRVQQFTSRRVELLIFSHLHELSLRWHLGRRTGEVLRIADRGTSSVTGLLSYLVFNVIPTLADIII
GIIYFSMFFNAWFGLIVFLCMSLYLTLTIVVTEWRTKFRRAMNTQENATRARAVDSLLNFETVKYYNAESYEVERYREAI
IKYQGLEWKSSASLVLLNQTQNLVIGLGLLAGSLLCAYFVTEQKLQVGDYVLFGTYIIQLYMPLNWFGTYYRMIQTNFID
MENMFDLLKEETEVKDLPGAGPLRFQKGRIEFENVHFSYADGRETLQDVSFTVMPGQTLALVGPSGAGKSTILRLLFRFY
DISSGCIRIDGQDISQVTQASLRSHIGVVPQDTVLFNDTIADNIRYGRVTAGNDEVEAAAQAAGIHDAIMAFPEGYRTQV
GERGLKLSGGEKQRVAIARTILKAPGIILLDEATSALDTSNERAIQASLAKVCANRTTIVVAHRLSTVVNADQILVIKDG
CIVERGRHEALLSRGGVYADMWQLQQGQEETSEDTKPQTMER*

Gene Symbol:ABCB6
Accession:NM_001349828
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:24281366   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000059344 CLINVAR
  RCV001699031 CLINVAR
  RCV001731356 CLINVAR
  RCV001731357 CLINVAR
  RCV001731358 CLINVAR
  RCV003974948 CLINVAR
dbSNP (RS) rs150221689 CLINVAR
MedGen C0162532 CLINVAR
  C0162565 CLINVAR
  C3281027 CLINVAR
  C3661900 CLINVAR
  C4692546 CLINVAR
NCBI Gene ABCB6 CLINVAR
OMIM 176000 CLINVAR
  176200 CLINVAR
  177000 CLINVAR
  605452 CLINVAR
  614497 CLINVAR
SNOMED CT 234422006 CLINVAR
  58275005 CLINVAR