Variant Details for KRT31

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Basic Information Top

Gene Symbol:	KRT31 ( HA1,Ha-1,KRTHA1,MGC138630,hHa1 )
Gene Full Name:	keratin 31
Band:	17q21.2
Quick Links	Entrez ID:3881; OMIM: 601077; Uniprot ID:K1H1_HUMAN; ENSEMBL ID: ENSG00000094796; HGNC ID: 6448
Relate to Another Database:	SFARIGene; denovo-db

Variant Statistic Top

Click the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19

Genetic Category	CNVs/SVs	de novo Mutations	Mosaics SNVs	NGS Other Mutations	Low-Scale Gene Mutations	Linkage Regions	Total
Number	0	1	1	0	0	1	3

CNVs/SVs Top

CNV ID	Chr	Band	Start	End	Size	Gain/Loss	UCSC Browser	Reference
No related data!

NGS de novo Mutations Top

iFish (integrated Functional inference of SNVs in human) is based on gene/gene family customized models to classify missense mutations.

Chr	Pos	Ref	Alt	Coding	AA	Validated Method	iFish Prediction	iFish Probability	Reference
17	39551867	A	G	c.T597C	p.199				Tammimies K, 2015

NGS Mosaic Mutations Top

Chr	Position	Ref	Alt	Genotype	Validated Method	Reference
17	39551197	G	A	Parental Mosaic Transmitted		Krupp DR, 2017

NGS Other Mutations Top

Chr	Pos	Ref	Alt	Coding	AA	Validated	iFish Prediction	iFish Probability	Reference
No related data!

Low-Scale Gene Mutations Top

Chr	Pos	Ref	Alt	Coding	AA	Validated	iFish Prediction	iFish Probability	Reference
No related data!

Linkage Regions Top

Linkage Name	Band	Chr	Marker	LOD	NPL	P Value	Reference
AutLD0000009	17q21.2	17	D17S1299	1.9	-	-	McCauley, 2005

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

Studies: 1,036
Genes: 1,379
CNVs/SVs: 5,420
SNVs/Indels: 11,669
de novo Mutations: 5,669
Mosaics: 789
Linkage Regions: 172

Paper Collected: 6/30/2018

Last Update: 8/26/2018

AutismKB 2.0

Variant Details for KRT31

Simple Query:

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics