chr1:25735331:G>T Detail (hg19) (RHCE)

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

Genome

Assembly	Position
hg19	chr1:25,735,331-25,735,331
hg38	chr1:25,408,840-25,408,840 View the variant detail on this assembly version.

HGVS

RHCE

Type	Transcript	Protein
RefSeq	NM_020485.4:c.178C>A	NP_065231.3:p.Leu60Ile
	NM_138618.3:c.178C>A	NP_619524.3:p.Leu60Ile
	NM_138616.3:c.178C>A	NP_619522.3:p.Leu60Ile
	NM_001330430.2:c.178C>A	NP_001317359.1:p.Leu60Ile
	NM_138617.3:c.178C>A	NP_619523.3:p.Leu60Ile
Ensemble	ENST00000294413.13:c.178C>A	ENST00000294413.13:p.Leu60Ile
	ENST00000349438.8:c.178C>A	ENST00000349438.8:p.Leu60Ile
	ENST00000346452.8:c.178C>A	ENST00000346452.8:p.Leu60Ile
	ENST00000413854.5:c.178C>A	ENST00000413854.5:p.Leu60Ile
	ENST00000349320.7:c.130C>A	ENST00000349320.7:p.Leu44Ile
	ENST00000340849.8:c.178C>A	ENST00000340849.8:p.Leu60Ile

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	not provided
Review star
Show details

Links

RHCE

Type	Database	ID	Link
Gene	MIM	111700	OMIM
	HGNC	10008	HGNC
	Ensembl	ENSG00000188672	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
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
<0.001	melanoma	We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; N...	BeFree	24170137	Detail

Annotation

Annotations

Descrption	Source	Links
NM_020485.8(RHCE):c.178C>A (p.Leu60Ile) AND not provided	ClinVar	Detail
We aim to examine the influence of the MC1R variants (RHC: D84E, R151C, R160W; NRHC: V60L, R163Q and...	DisGeNET	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: rs181860403 dbSNP
Genome: hg19
Position: chr1:25,735,331-25,735,331
Variant Type: snv
Reference Allele: G
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 4344
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): 89340
Allele Counts in All Race (ExAC): 3
Heterozygous Counts in All Race (ExAC): 3
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.35795836131632E-5

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