Overview

Variant ID 7372
Entrez Gene ID 100302177
Gene MIR1269A (GeneCards)
Location hg19 4:67835865-67835865
hg38 4:66970147-66970147
Disease Xeroderma Pigmentosum (view all the variants in this disease)
Method HiSeq X Ten
Mutation(HGVS format) NC_000004.11:g.67835865 T>G (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 191154276

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.0812
CADD Raw score (version 1.3) 0.245142 (Deleterious)
FATHMM raw prediction score 0.10255 (Tolerated)
Deleterious probability by DeFine 0.3333 (Neutral)
Entrez Gene ID 100302177 (NCBI Gene)
Official Gene Symbol MIR1269A (GeneCards)
Number of variants in MIR1269A in this database 17 (view all the variants)
Full name microRNA 1269a
Band 4q13.2
Other IDs miRBase: MI0006406
HGNC: HGNC:35337
Ensembl: ENSG00000221563
Other names MIR1269, MIRN1269, hsa-mir-1269, hsa-mir-1269a
Summary microRNAs (miRNAs) are short (20-24 nt) non-coding RNAs that are involved in post-transcriptional regulation of gene expression in multicellular organisms by affecting both the stability and translation of mRNAs. miRNAs are transcribed by RNA polymerase II as part of capped and polyadenylated primary transcripts (pri-miRNAs) that can be either protein-coding or non-coding. The primary transcript is cleaved by the Drosha ribonuclease III enzyme to produce an approximately 70-nt stem-loop precursor miRNA (pre-miRNA), which is further cleaved by the cytoplasmic Dicer ribonuclease to generate the mature miRNA and antisense miRNA star (miRNA*) products. The mature miRNA is incorporated into a RNA-induced silencing complex (RISC), which recognizes target mRNAs through imperfect base pairing with the miRNA and most commonly results in translational inhibition or destabilization of the target mRNA. The RefSeq represents the predicted microRNA stem-loop. [provided by RefSeq, Sep 2009]

Individual #1

Individual ID 29217584.23 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Female Patient  
Phenotype 3  
Disease Xeroderma Pigmentosum (view all the variants in this disease)
OMIM ID 278700

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;