RGD:21073280 Rat Genome Database

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Variant: RGD:21073280 -  Homo sapiens

RGD ID: 21073280
RS ID: rs367716680
ClinVar ID: CV792047
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NF2  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 22 30,064,450
GRCh38 22 29,668,461
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_181833.3:c.447+26176G>A
LRG_511t2:c.999+15G>A
NM_181828.3:c.873+15G>A
LRG_511:g.69906G>A
More... 		12/11/2021 intron variant benign|likely benign Acoustic neurinoma bilateral; Acoustic schwannomas bilateral; Bilateral acoustic neurofibromatosis; Neurofibromatosis central type; Neurofibromatosis type II; NF 2; none provided; SCHWANNOMATOSIS, VESTIBULAR
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:NF2
Accession:NM_001407056
Location:INTRON

Gene Symbol:NF2
Accession:NM_181832
Location:INTRON

Gene Symbol:NF2
Accession:NM_000268
Location:INTRON

Gene Symbol:NF2
Accession:NM_181831
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407067
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407064
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407063
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407053
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407059
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407062
Location:INTRON

Gene Symbol:NF2
Accession:NM_181833
Location:INTRON

Gene Symbol:NF2
Accession:XM_047441386
Location:INTRON

Gene Symbol:NF2
Accession:XM_017028809
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407065
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407057
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407066
Location:INTRON

Gene Symbol:NF2
Accession:NM_016418
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407055
Location:INTRON

Gene Symbol:NF2
Accession:NM_181825
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407054
Location:INTRON

Gene Symbol:NF2
Accession:NM_181828
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407060
Location:INTRON

Gene Symbol:NF2
Accession:NM_001407058
Location:INTRON

Gene Symbol:NF2
Accession:NM_181829
Location:INTRON

Gene Symbol:NF2
Accession:NM_181830
Location:INTRON

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

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000990415 CLINVAR
  RCV001811556 CLINVAR
dbSNP (RS) rs367716680 CLINVAR
MedGen C0027832 CLINVAR
  C3661900 CLINVAR
NCBI Gene NF2 CLINVAR
OMIM 101000 CLINVAR
  607379 CLINVAR
SNOMED CT 92503002 CLINVAR