RGD:28880296 Rat Genome Database

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Variant: RGD:28880296 -  Homo sapiens

RGD ID: 28880296
RS ID: rs55901384
ClinVar ID: CV902542
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AOPEP  FANCC  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 9 97,862,610
GRCh38 9 95,100,328
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000136.3:c.*1379C>G
NC_000009.12:g.95100328G>C
NC_000009.11:g.97862610G>C
NM_000136.2:c.*1379C>G
More... 		01/12/2018 3 prime utr variant uncertain significance FACC; Fanconi anemia, group C; FANCONI PANCYTOPENIA, TYPE 3
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:FANCC
Accession:NM_001243743
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422958
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_011518365
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422951
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422952
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_006717001
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422949
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_024447451
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422950
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422957
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_005251802
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:XM_047422948
Location:3UTRS;EXON

Gene Symbol:FANCC
Accession:NM_000136
Location:3UTRS;EXON

Gene Symbol:AOPEP
Accession:NM_001386071
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423979
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519132
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386073
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717004
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423984
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423981
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_032823
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193329
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386066
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422959
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519122
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519127
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015234
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015231
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386074
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423982
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423985
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519121
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015236
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015232
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519134
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423988
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519130
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386069
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001193331
Location:INTRON

Gene Symbol:FANCC
Accession:XM_011518366
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386063
Location:INTRON

Gene Symbol:FANCC
Accession:XM_006717002
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423986
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_017015237
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422953
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386067
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422955
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386070
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422954
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423980
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386068
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386075
Location:INTRON

Gene Symbol:FANCC
Accession:XM_047422956
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386076
Location:INTRON

Gene Symbol:FANCC
Accession:NM_001243744
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423987
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386072
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423983
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_011519123
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386061
Location:INTRON

Gene Symbol:AOPEP
Accession:NM_001386062
Location:INTRON

Gene Symbol:AOPEP
Accession:XM_047423978
Location:INTRON

Gene Symbol:AOPEP
Accession:XR_929857
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169865
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169867
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169862
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_007061363
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_929853
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_929855
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_007061365
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169864
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_929854
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169863
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:NR_169866
Location:INTRON;NON-CODING

Gene Symbol:AOPEP
Accession:XR_007061364
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001167286 CLINVAR
dbSNP (RS) rs55901384 CLINVAR
MedGen C3468041 CLINVAR
NCBI Gene AOPEP CLINVAR
  FANCC CLINVAR
OMIM 227645 CLINVAR
  613899 CLINVAR
  619600 CLINVAR