chr1:110561075:A>T Detail (hg19) (AHCYL1, LOC126805824)

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

Genome

Assembly	Position
hg19	chr1:110,561,075-110,561,075
hg38	chr1:110,018,453-110,018,453 View the variant detail on this assembly version.

HGVS

AHCYL1

Type	Transcript	Protein
RefSeq	NM_001242675.1:c.1063A>T	NP_001229604.1:p.Thr355Ser
	NM_001242676.1:c.1063A>T	NP_001229605.1:p.Thr355Ser
	NM_006621.5:c.1204A>T	NP_006612.2:p.Thr402Ser
	NM_001242673.1:c.1063A>T	NP_001229602.1:p.Thr355Ser
	NM_001242674.1:c.1063A>T	NP_001229603.1:p.Thr355Ser
Ensemble	ENST00000359172.3:c.1063A>T	ENST00000359172.3:p.Thr355Ser
	ENST00000369799.10:c.1204A>T	ENST00000369799.10:p.Thr402Ser
	ENST00000393614.8:c.1063A>T	ENST00000393614.8:p.Thr355Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
Show details

Links

AHCYL1

Type	Database	ID	Link
Gene	MIM	607826	OMIM
	HGNC	344	HGNC
	Ensembl	ENSG00000168710	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	2023-10-20	criteria provided, single submitter	not specified	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_006621.7(AHCYL1):c.1204A>T (p.Thr402Ser) AND not specified	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: -
Genome: hg19
Position: chr1:110,561,075-110,561,075
Variant Type: snv
Reference Allele: A
Alternative Allele: T

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