RGD:155969943 Rat Genome Database

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Variant: RGD:155969943 -  Homo sapiens

RGD ID: 155969943
ClinVar ID: CV2335527
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: C11orf24  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 11 68,029,499
GRCh38 11 68,262,031
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001300913.2:c.265-306C>G
NM_022338.4:c.964C>G
NC_000011.10:g.68262031G>C
NC_000011.9:g.68029499G>C
More... 		07/09/2021 intron variant uncertain significance
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:C11orf24
Accession:NM_022338
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTALVLIWIFSLSLSESHAASNDPRNFVPNKMWKGLVKRNASVETVDNKTSEDVTMAAASPVTLTKGTSAAHLNSMEVT
TEDTSRTDVSEPATSGGAADGVTSIAPTAVASSTTAASITTAASSMTVASSAPTTAASSTTVASIAPTTAASSMTAASST
PMTLALPAPTSTSTGRTPSTTATGHPSLSTALAQVPKSSALPRTATLATLATRAQTVATTANTSSPMSTRPSPSKHMPSD
TAASPVPPMRPQAQGPISQVSVDQPVVNTTNKSTPMPSNTTPEPAPTPTVVTTTKAQAREPTASPVPVPHTSPIPEMEAM
SATTQPSPMPYTQRAAGPGTSQAPEQVETEATPGTDSTGPTPRSSGGTKMPATDSCQPSTQGQYMVVTTEPLTQAVVDKT
LLLVVLLLGVTLFITVLVLFALQAYESYKKKDYTQVDYLINGMYADSEM*

Gene Symbol:C11orf24
Accession:XM_005274053
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 322
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWTALVLIWIFSLSLSESHAASNDPRNFVPNKMWKGLVKRNASVETVDNKTSEDVTMAAASPVTLTKGTSAAHLNSMEVT
TEDTSRTDVSEPATSGGAADGVTSIAPTAVASSTTAASITTAASSMTVASSAPTTAASSTTVASIAPTTAASSMTAASST
PMTLALPAPTSTSTGRTPSTTATGHPSLSTALAQVPKSSALPRTATLATLATRAQTVATTANTSSPMSTRPSPSKHMPSD
TAASPVPPMRPQAQGPISQVSVDQPVVNTTNKSTPMPSNTTPEPAPTPTVVTTTKAQAREPTASPVPVPHTSPIPEMEAM
SATTQPSPMPYTQRAAGPGTSQAPEQVETEATPGTDSTGPTPRSSGGTKMPATDSCQPSTQGQYMVVTTEPLTQAVVDKT
LLLVVLLLGVTLFITVLVLFALQAYESYKKKDYTQVDYLINGMYADSEM*

Gene Symbol:C11orf24
Accession:XM_011545103
Location:EXON
Amino Acid Prediction: P to A (nonsynonymous)
Amino Acid Position: 290
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MWKGLVKRNASVETVDNKTSEDVTMAAASPVTLTKGTSAAHLNSMEVTTEDTSRTDVSEPATSGGAADGVTSIAPTAVAS
STTAASITTAASSMTVASSAPTTAASSTTVASIAPTTAASSMTAASSTPMTLALPAPTSTSTGRTPSTTATGHPSLSTAL
AQVPKSSALPRTATLATLATRAQTVATTANTSSPMSTRPSPSKHMPSDTAASPVPPMRPQAQGPISQVSVDQPVVNTTNK
STPMPSNTTPEPAPTPTVVTTTKAQAREPTASPVPVPHTSPIPEMEAMSATTQPSPMPYTQRAAGPGTSQAPEQVETEAT
PGTDSTGPTPRSSGGTKMPATDSCQPSTQGQYMVVTTEPLTQAVVDKTLLLVVLLLGVTLFITVLVLFALQAYESYKKKD
YTQVDYLINGMYADSEM*

Gene Symbol:C11orf24
Accession:XM_047427129
Location:INTRON

Gene Symbol:C11orf24
Accession:NM_001300913
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV002972890 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene C11orf24 CLINVAR
OMIM 610880 CLINVAR