RRQTL1
MCID: RCM006
MIFTS: 11

Recombination Rate Quantitative Trait Locus 1 (RRQTL1)

Categories: Genetic diseases

Aliases & Classifications for Recombination Rate Quantitative Trait Locus 1

MalaCards integrated aliases for Recombination Rate Quantitative Trait Locus 1:

Name: Recombination Rate Quantitative Trait Locus 1 57 29 6 39
Recombination Rate Qtl 1 57 13
Rrqtl1 57

Classifications:



External Ids:

OMIM® 57 612042

Summaries for Recombination Rate Quantitative Trait Locus 1

OMIM® : 57 Recombination plays a crucial role in meiosis, ensuring the proper segregation of chromosomes. Linkage disequilibrium (LD) and sperm typing studies suggested that recombination rates vary tremendously across the human genome, with most events occurring in narrow hotspots (Coop et al., 2008). To examine variation in fine-scale recombination patterns among individuals, Coop et al. (2008) used dense genomewide nucleotide polymorphism data collected in nuclear families to localize crossovers with high spatial resolution. This analysis revealed that overall recombination hotspot usage is similar in males and females, with individual hotspots often active in both sexes. Across the genome, roughly 60% of crossovers occurred in hotspots inferred from LD studies (on chromosomes 17, 19, 10, and 11). Notably, however, Coop et al. (2008) found extensive and heritable variation among both males and females in the proportion of crossovers occurring in these hotspots. (612042) (Updated 05-Apr-2021)

MalaCards based summary : Recombination Rate Quantitative Trait Locus 1, is also known as recombination rate qtl 1. An important gene associated with Recombination Rate Quantitative Trait Locus 1 is RNF212 (Ring Finger Protein 212).

Related Diseases for Recombination Rate Quantitative Trait Locus 1

Symptoms & Phenotypes for Recombination Rate Quantitative Trait Locus 1

Clinical features from OMIM®:

612042 (Updated 05-Apr-2021)

Drugs & Therapeutics for Recombination Rate Quantitative Trait Locus 1

Search Clinical Trials , NIH Clinical Center for Recombination Rate Quantitative Trait Locus 1

Genetic Tests for Recombination Rate Quantitative Trait Locus 1

Genetic tests related to Recombination Rate Quantitative Trait Locus 1:

# Genetic test Affiliating Genes
1 Recombination Rate Quantitative Trait Locus 1 29 RNF212

Anatomical Context for Recombination Rate Quantitative Trait Locus 1

Publications for Recombination Rate Quantitative Trait Locus 1

Articles related to Recombination Rate Quantitative Trait Locus 1:

# Title Authors PMID Year
1
Sequence variants in the RNF212 gene associate with genome-wide recombination rate. 6 57
18239089 2008
2
High-resolution mapping of crossovers reveals extensive variation in fine-scale recombination patterns among humans. 57
18239090 2008

Variations for Recombination Rate Quantitative Trait Locus 1

ClinVar genetic disease variations for Recombination Rate Quantitative Trait Locus 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 RNF212 NM_001131034.4(RNF212):c.172-4654T>C SNV association 735 rs3796619 GRCh37: 4:1095281-1095281
GRCh38: 4:1101493-1101493
2 RNF212 NM_001131034.4(RNF212):c.362+1497C>T SNV association 736 rs1670533 GRCh37: 4:1078187-1078187
GRCh38: 4:1084399-1084399
3 RNF212 NM_001131034.4(RNF212):c.247-2701C>G SNV Pathogenic 998294 GRCh37: 4:1087327-1087327
GRCh38: 4:1093539-1093539

Expression for Recombination Rate Quantitative Trait Locus 1

Search GEO for disease gene expression data for Recombination Rate Quantitative Trait Locus 1.

Pathways for Recombination Rate Quantitative Trait Locus 1

GO Terms for Recombination Rate Quantitative Trait Locus 1

Sources for Recombination Rate Quantitative Trait Locus 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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