RGD:401863290 Rat Genome Database

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Variant: RGD:401863290 -  Homo sapiens

RGD ID: 401863290
ClinVar ID: CV2775839
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ACRV1  CHEK1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 125,548,169
GRCh38 11 125,678,274
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001612.6:c.76C>A
NM_020069.5:c.76C>A
NM_020107.5:c.76C>A
NM_020108.5:c.76C>A
More... 		06/29/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:ACRV1
Accession:NM_001612
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRFLLLMSLYLLGSARGTSSQPNEFSGSIDHQTSVQQLPGEFFSLENPSDAEALYETSSGLNTLSEHGSSEHGSSKHTV
AEHTSGEHAESEHASGEPAATEHAEGEHTVGEQPSGEQPSGEHLSGEQPLSELESGEQPSDEQPSGEHGSGEQPSGEQAS
GEQPSGEHASGEQASGAPISSTSTGTILNCYTCAYMNDQGKCLRGEGTCITQNSQQCMLKKIFEGGKLQFMVQGCENMCP
SMNLFSHGTRMQIICCRNQSFCNKI*

Gene Symbol:ACRV1
Accession:NM_020107
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRFLLLMSLYLLGSARGTSSQPNEFSGSIDHQTSVQQLPGEPAATEHAEGEHTVGEQPSGEQPSGEHLSGEQPLSELES
GEQPSDEQPSGEHGSGEQPSGEQASGEQPSGEHASGEQASGAPISSTSTGTILNCYTCAYMNDQGKCLRGEGTCITQNSQ
QCMLKKIFEGGKLQFMVQGCENMCPSMNLFSHGTRMQIICCRNQSFCNKI*

Gene Symbol:ACRV1
Accession:NM_020108
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRFLLLMSLYLLGSARGTSSQPNEFSGSIDHQTSVQQLPGEQPSGEQPSGEHLSGEQPLSELESGEQPSDEQPSGEHGS
GEQPSGEQASGEQPSGEHASGEQASGAPISSTSTGTILNCYTCAYMNDQGKCLRGEGTCITQNSQQCMLKKIFEGGKLQF
MVQGCENMCPSMNLFSHGTRMQIICCRNQSFCNKI*

Gene Symbol:ACRV1
Accession:NM_020069
Location:EXON
Amino Acid Prediction: L to F (nonsynonymous)
Amino Acid Position: 26
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNRFLLLMSLYLLGSARGTSSQPNEFSGSIDHQTSVQQLPGEFFSLENPSDAEALYETSSGLNTLSEHGSSEHGSSKHTV
AEHTSGEHAESEHASGEPAATEHAEGEHTVGEQPSGEQPSGEHLSGEQPLSELESGEQPSDEQPSGEHGSGEQPSGEQAS
GEQPSGTILNCYTCAYMNDQGKCLRGEGTCITQNSQQCMLKKIFEGGKLQFMVQGCENMCPSMNLFSHGTRMQIICCRNQ
SFCNKI*

Gene Symbol:CHEK1
Accession:XR_007062447
Location:EXON;NON-CODING

Gene Symbol:CHEK1
Accession:NM_001244846
Location:INTRON

Gene Symbol:CHEK1
Accession:NM_001330427
Location:INTRON

Gene Symbol:CHEK1
Accession:XM_024448337
Location:INTRON

Gene Symbol:CHEK1
Accession:NM_001114122
Location:INTRON

Gene Symbol:CHEK1
Accession:XM_047426312
Location:INTRON

Gene Symbol:CHEK1
Accession:XM_011542560
Location:INTRON

Gene Symbol:CHEK1
Accession:XM_047426311
Location:INTRON

Gene Symbol:CHEK1
Accession:NM_001330428
Location:INTRON

Gene Symbol:CHEK1
Accession:NM_001274
Location:INTRON

Gene Symbol:CHEK1
Accession:XM_047426313
Location:INTRON

Gene Symbol:CHEK1
Accession:NM_001114121
Location:INTRON

Gene Symbol:CHEK1
Accession:NR_045204
Location:INTRON;NON-CODING

Gene Symbol:CHEK1
Accession:NR_045205
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004344876 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ACRV1 CLINVAR
  CHEK1 CLINVAR
OMIM 102525 CLINVAR
  603078 CLINVAR