FAM210A

family with sequence similarity 210 member A

Basic information

Region (hg38): 18:13663347-13726663

Previous symbols: [ "C18orf19" ]

Links

ENSG00000177150NCBI:125228OMIM:617975HGNC:28346Uniprot:Q96ND0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the FAM210A gene.

  • not_specified (35 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the FAM210A gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152352.4. Only rare variants are included in the table.

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.

EffectPLPVUSLBBSum
synonymous
0
missense
32
clinvar
3
clinvar
35
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
0
Total 0 0 32 3 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
FAM210Aprotein_codingprotein_codingENST00000322247 363317
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.000001060.3501257110371257480.000147
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.4561331490.8950.000007881752
Missense in Polyphen3755.3630.66831643
Synonymous-0.1025655.01.020.00000278549
Loss of Function0.4491011.70.8586.55e-7142

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0004050.000403
Ashkenazi Jewish0.000.00
East Asian0.0002180.000217
Finnish0.0002320.000231
European (Non-Finnish)0.0001360.000132
Middle Eastern0.0002180.000217
South Asian0.0001930.000163
Other0.000.00

dbNSFP

Source: dbNSFP

Function
FUNCTION: May play a role in the structure and strength of both muscle and bone. {ECO:0000250|UniProtKB:Q8BGY7}.;

Recessive Scores

pRec
0.101

Intolerance Scores

loftool
rvis_EVS
-0.23
rvis_percentile_EVS
37.11

Haploinsufficiency Scores

pHI
0.111
hipred
N
hipred_score
0.292
ghis
0.579

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
N
gene_indispensability_score
0.114

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Fam210a
Phenotype
growth/size/body region phenotype; limbs/digits/tail phenotype; hematopoietic system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); immune system phenotype; skeleton phenotype;

Gene ontology

Biological process
biological_process
Cellular component
cytoplasm;mitochondrion;integral component of membrane
Molecular function
molecular_function