chr16:75555872:G>A Detail (hg38) (TMEM231)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr16:75,589,770-75,589,770 View the variant detail on this assembly version.
hg38	chr16:75,555,872-75,555,872

HGVS

TMEM231

Type	Transcript	Protein
RefSeq	NM_001077418.2:c.241C>T	NP_001070886.1:p.Leu81Phe
	NM_001077416.2:c.328C>T	NP_001070884.2:p.Leu110Phe
Ensemble	ENST00000258173.11:c.241C>T	ENST00000258173.11:p.Leu81Phe
	ENST00000565067.5:c.241C>T	ENST00000565067.5:p.Leu81Phe
	ENST00000568377.5:c.328C>T	ENST00000568377.5:p.Leu110Phe
	ENST00000685935.1:c.241C>T	ENST00000685935.1:p.Leu81Phe
	ENST00000693682.1:c.241C>T	ENST00000693682.1:p.Leu81Phe

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
Review star
Show details

Links

TMEM231

Type	Database	ID	Link
Gene	MIM	614949	OMIM
	HGNC	37234	HGNC
	Ensembl	ENSG00000205084	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Uncertain significance	2017-05-08	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2019-06-23	no assertion criteria provided	ciliopathy	inherited	Detail
Likely pathogenic	2023-12-18	criteria provided, single submitter	Meckel syndrome, type 11,Joubert syndrome 20	germline	Detail
Likely pathogenic	2023-12-18	criteria provided, single submitter	Meckel syndrome, type 11,Joubert syndrome 20	germline	Detail
Pathogenic		criteria provided, single submitter	Joubert syndrome 20	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) AND not provided	ClinVar	Detail
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) AND Ciliopathy	ClinVar	Detail
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) AND multiple conditions	ClinVar	Detail
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) AND multiple conditions	ClinVar	Detail
NM_001077418.3(TMEM231):c.241C>T (p.Leu81Phe) AND Joubert syndrome 20	ClinVar	Detail

Overlapped Transcript Coordinates

Gene	Transcript ID	Exon Number	Chromosome	Start	Stop	Type	Amino Mutation	Transcript Position	Links

Overlapped Transcript

Gene	Transcript ID	Chromosome	Start	Stop	Links

Gene: -
dbSNP: rs376555896 dbSNP
Genome: hg38
Position: chr16:75,555,872-75,555,872
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 3216
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 42556
Allele Counts in All Race (ExAC): 2
Heterozygous Counts in All Race (ExAC): 2
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.699689820471849E-5

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