RGD:38459455 Rat Genome Database

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Variant: RGD:38459455 -  Homo sapiens

RGD ID: 38459455
RS ID: rs1926802970
ClinVar ID: CV959297
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATP6AP2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 X 40,456,810
GRCh38 X 40,597,558
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005765.3:c.428T>C
NG_008874.1:g.21595T>C
NC_000023.11:g.40597558T>C
NC_000023.10:g.40456810T>C
More... 		10/14/2019 missense variant uncertain significance INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, HEDERA TYPE
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ATP6AP2
Accession:NM_005765
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAVFVVLLALVAGVLGNEFSILKSPGSVVFRNGNWPIPGERIPDVAALSMGFSVKEDLSWPGLAVGNLFHRPRATVMVMV
KGVNKLALPPGSVISYPLENAVPFSLDSVANSIHSLFSEETPVVLQLAPSEERVYMVGKANSAFEDLSVTLRQLRNRLFQ
ENSVLSSLPLNSLSRNNEVDLLFLSELQVLHDISSLLSRHKHLAKDHSPDLYSLELAGLDEIGKRYGEDSEQFRDASKIL
VDALQKFADDMYSLYGGNAVVELVTVKSFDTSLIRKTRTILEAKQAKNPASPYNLAYKYNFEYSVVFNMVLWIMIALALA
VIITSYNIWNMDPGYDSIIYRMTNQKIRMD*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001246557 CLINVAR
dbSNP (RS) rs1926802970 CLINVAR
MedGen C1845543 CLINVAR
NCBI Gene ATP6AP2 CLINVAR
OMIM 300423 CLINVAR
  300556 CLINVAR