RGD:11653440 Rat Genome Database

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Variant: RGD:11653440 -  Homo sapiens

RGD ID: 11653440
RS ID: rs886057359
ClinVar ID: CV352354
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF2  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 22 30,092,230
GRCh38 22 29,696,241
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_000268.3:c.*1439T>C
LRG_511t1:c.*1439T>C
LRG_511t2:c.*1499T>C
NM_016418.5:c.*1499T>C
More... 		06/14/2016 3 prime utr variant uncertain significance all ages 1-9 / 100 000 Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; Neurofibromatosis central type; Neurofibromatosis type II; NF 2; SCHWANNOMATOSIS, VESTIBULAR
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NF2
Accession:NM_000268
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407067
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407054
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407053
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407057
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407056
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407065
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407059
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:XM_017028809
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407060
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_181832
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_181829
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:XM_047441386
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_181833
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407058
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407063
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_181828
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_016418
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_181830
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407055
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407062
Location:3UTRS;EXON

Gene Symbol:NF2
Accession:NM_001407064
Location:3UTRS;EXON

Gene Symbol:
Accession:
Location:EXON;NON-CODING

Gene Symbol:NF2
Accession:NR_176267
Location:EXON;NON-CODING

Gene Symbol:NF2
Accession:NM_181825
Location:INTRON

Gene Symbol:NF2
Accession:NM_181831
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407066
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000311106 CLINVAR
dbSNP (RS) rs886057359 CLINVAR
MedGen C0027832 CLINVAR
NCBI Gene NF2 CLINVAR
OMIM 101000 CLINVAR
  607379 CLINVAR
SNOMED CT 92503002 CLINVAR