chr10:100193800:G>A Detail (hg19) (HPS1)

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

Information

Genome

Assembly	Position
hg19	chr10:100,193,800-100,193,800
hg38	chr10:98,434,043-98,434,043 View the variant detail on this assembly version.

HGVS

HPS1

Type	Transcript	Protein
RefSeq	NM_001311345.1:c.447C>T	NP_001298274.1:p.Phe149=
	NM_001322477.1:c.447C>T	NP_001309406.1:p.Phe149=
	NM_001322479.1:c.447C>T	NP_001309408.1:p.Phe149=
	NM_001322481.1:c.447C>T	NP_001309410.1:p.Phe149=
	NM_001322482.1:c.447C>T	NP_001309411.1:p.Phe149=
	NM_001322484.1:c.447C>T	NP_001309413.1:p.Phe149=
	NM_001322487.1:c.447C>T	NP_001309416.1:p.Phe149=
	NM_001322489.1:c.447C>T	NP_001309418.1:p.Phe149=
	NM_001322490.1:c.447C>T	NP_001309419.1:p.Phe149=
	NM_001322491.1:c.447C>T	NP_001309420.1:p.Phe149=
	NM_001322492.1:c.447C>T	NP_001309421.1:p.Phe149=
	NM_182639.3:c.447C>T	NP_872577.1:p.Phe149=
Ensemble	ENST00000699139.1:c.304C>T	ENST00000699139.1:p.Pro102Ser
	ENST00000699137.1:c.447C>T	ENST00000699137.1:p.Phe149=
	ENST00000414009.2:c.447C>T	ENST00000414009.2:p.Phe149=
	ENST00000699146.1:c.447C>T	ENST00000699146.1:p.Phe149=
	ENST00000325103.10:c.447C>T	ENST00000325103.10:p.Phe149=
	ENST00000699125.1:c.447C>T	ENST00000699125.1:p.Phe149=
	ENST00000699133.1:c.447C>T	ENST00000699133.1:p.Phe149=
	ENST00000699134.1:c.447C>T	ENST00000699134.1:p.Phe149=
	ENST00000699118.1:c.447C>T	ENST00000699118.1:p.Phe149=
	ENST00000699122.1:c.304C>T	ENST00000699122.1:p.Pro102Ser
	ENST00000699131.1:c.447C>T	ENST00000699131.1:p.Phe149=
	ENST00000699140.1:c.447C>T	ENST00000699140.1:p.Phe149=
	ENST00000699136.1:c.447C>T	ENST00000699136.1:p.Phe149=
	ENST00000699142.1:c.447C>T	ENST00000699142.1:p.Phe149=
	ENST00000338546.9:c.447C>T	ENST00000338546.9:p.Phe149=
	ENST00000361490.9:c.447C>T	ENST00000361490.9:p.Phe149=

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Likely benign
Review star
Show details

Links

HPS1

Type	Database	ID	Link
Gene	MIM	604982	OMIM
	HGNC	5163	HGNC
	Ensembl	ENSG00000107521	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
Likely benign	2024-01-20	criteria provided, single submitter	not provided	germline	Detail
Uncertain significance	2020-02-13	no assertion criteria provided	Hermansky-Pudlak syndrome	germline	Detail
Likely benign	2020-02-04	criteria provided, single submitter	HPS1-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

[No Data.]

Annotation

Annotations

Descrption	Source	Links
NM_000195.5(HPS1):c.447C>T (p.Phe149=) AND not provided	ClinVar	Detail
NM_000195.5(HPS1):c.447C>T (p.Phe149=) AND Hermansky-Pudlak syndrome	ClinVar	Detail
NM_000195.5(HPS1):c.447C>T (p.Phe149=) AND HPS1-related disorder	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: rs564896584 dbSNP
Genome: hg19
Position: chr10:100,193,800-100,193,800
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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