RGD:405797862 Rat Genome Database

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Variant: RGD:405797862 -  Homo sapiens

RGD ID: 405797862
ClinVar ID: CV3263408
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: HOTAIR  HOXC11  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 12 54,367,118
GRCh38 12 53,973,334
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014212.4:c.93C>A
NC_000012.12:g.53973334C>A
NC_000012.11:g.54367118C>A
NM_014212.3:c.93C>A
More... 		01/30/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:HOXC11
Accession:NM_014212
Location:EXON
Amino Acid Prediction: N to K (nonsynonymous)
Amino Acid Position: 31
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MFNSVNLGNFCSPSRKERGADFGERGSCASKLYLPSCTYYMPEFSTVSSFLPQAPSRQISYPYSAQVPPVREVSYGLEPS
GKWHHRNSYSSCYAAADELMHRECLPPSTVTEILMKNEGSYGGHHHPSAPHATPAGFYSSVNKNSVLPQAFDRFFDNAYC
GGGDPPAEPPCSGKGEAKGEPEAPPASGLASRAEAGAEAEAEEENTNPSSSGSAHSVAKEPAKGAAPNAPRTRKKRCPYS
KFQIRELEREFFFNVYINKEKRLQLSRMLNLTDRQVKIWFQNRRMKEKKLSRDRLQYFSGNPLL*

Gene Symbol:HOTAIR
Accession:NR_186242
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186237
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_047518
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186239
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186243
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186250
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186246
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186245
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186241
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_047517
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_003716
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186248
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186247
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186244
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186240
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186238
Location:INTRON;NON-CODING

Gene Symbol:HOTAIR
Accession:NR_186249
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004402047 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene HOTAIR CLINVAR
  HOXC11 CLINVAR
OMIM 605559 CLINVAR
  611400 CLINVAR