NC_000006.12:g.151630085A>G AND Estrogen resistance syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 1, 2014
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000143995.1

Allele description [Variation Report for NC_000006.12:g.151630085A>G]

NC_000006.12:g.151630085A>G

Gene:

CCDC170:coiled-coil domain containing 170 [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q25.1

Genomic location:

Preferred name:

NC_000006.12:g.151630085A>G

HGVS:

NC_000006.12:g.151630085A>G
NC_000006.11:g.151951220A>G

Links:

dbSNP: rs9397435

NCBI 1000 Genomes Browser:

rs9397435

Condition(s)

Name:: Estrogen resistance syndrome
Synonyms:: Estrogen resistance; ESTROGEN INSENSITIVITY
Identifiers:: MONDO: MONDO:0014148; MedGen: C3809250; OMIM: 615363

Recent activity

Clear Turn Off Turn On

Megacephala thomsoniana isolate Ttho-18S/59 18S ribosomal RNA gene, partial sequ...
Megacephala thomsoniana isolate Ttho-18S/59 18S ribosomal RNA gene, partial sequence
gi|76162751|gb|DQ152131.1|

Nucleotide
Megacephala virginica isolate Tvir-18S/60 18S ribosomal RNA gene, partial sequen...
Megacephala virginica isolate Tvir-18S/60 18S ribosomal RNA gene, partial sequence
gi|76162752|gb|DQ152132.1|

Nucleotide
transcription factor TFIIIB family protein [Babesia bovis T2Bo]
transcription factor TFIIIB family protein [Babesia bovis T2Bo]
gi|2325212660|ref|XP_001609367.2|

Protein
hypothetical protein I6K54_25655 [Klebsiella pneumoniae]
hypothetical protein I6K54_25655 [Klebsiella pneumoniae]
gi|1987911974|gnl|PRJNA231221|I6K54 5|gb|QRR76200.1|

Protein

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000188881	Department of Breast and Endocrine Surgery, Kumamoto University	no assertion criteria provided	Uncertain significance (Mar 1, 2014)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000188881

Department of Breast and Endocrine Surgery, Kumamoto University

no assertion criteria provided

Uncertain significance
(Mar 1, 2014)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Asian	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Department of Breast and Endocrine Surgery, Kumamoto University, SCV000188881.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Asian	not provided	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

ClinVar

Relating variation to medicine