chr4:87114427:C>T Detail (hg38) (AFF1)

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

Genome

Assembly	Position
hg19	chr4:88,035,579-88,035,579 View the variant detail on this assembly version.
hg38	chr4:87,114,427-87,114,427

HGVS

AFF1

Type	Transcript	Protein
RefSeq	NM_001313959.1:c.1573C>T	NP_001300888.1:p.Pro525Ser
	NM_005935.3:c.1573C>T	NP_005926.1:p.Pro525Ser
	NM_001166693.2:c.1594C>T	NP_001160165.1:p.Pro532Ser
	NM_001313960.1:c.1573C>T	NP_001300889.1:p.Pro525Ser
Ensemble	ENST00000307808.10:c.1573C>T	ENST00000307808.10:p.Pro525Ser
	ENST00000395146.9:c.1594C>T	ENST00000395146.9:p.Pro532Ser
	ENST00000544085.6:c.1573C>T	ENST00000544085.6:p.Pro525Ser

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Uncertain significance
Review star
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Links

AFF1

Type	Database	ID	Link
Gene	MIM	159557	OMIM
	HGNC	7135	HGNC
	Ensembl	ENSG00000172493	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	2023-01-01	no assertion criteria provided	teratoma	somatic	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_001166693.3(AFF1):c.1594C>T (p.Pro532Ser) AND Teratoma	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: hg38
Position: chr4:87,114,427-87,114,427
Variant Type: snv
Reference Allele: C
Alternative Allele: T

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