MFSD12-AS1

MFSD12 antisense RNA 1, the group of Antisense RNAs

Basic information

Region (hg38): 19:3544199-3557569

Links

ENSG00000267436HGNC:56727GenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the MFSD12-AS1 gene.

  • not provided (7 variants)
  • MFSD12 POLYMORPHISM (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the MFSD12-AS1 gene is commonly pathogenic or not.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Variant type Pathogenic Likely pathogenic VUS Likely benign Benign Sum
synonymous
0
missense
0
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
3
clinvar
4
clinvar
7
Total 0 0 0 3 4

Variants in MFSD12-AS1

This is a list of pathogenic ClinVar variants found in the MFSD12-AS1 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position Type Phenotype Significance ClinVar
19-3544876-G-A Benign (Feb 26, 2018)786962
19-3545024-C-T MFSD12 POLYMORPHISM Benign (Jan 10, 2019)492942
19-3546187-G-A Benign (Mar 19, 2019)1275182
19-3546266-C-T Likely benign (Apr 01, 2023)2648992
19-3546337-G-A Likely benign (Apr 01, 2022)2648993
19-3546342-G-A Benign (Nov 01, 2019)1236130
19-3551127-C-T Likely benign (Oct 01, 2023)2648994

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP