Variant details: 2 48030588 C/T (GRCH37)
| GRCH37 genomic region | 2:48030588-48030588 |
|---|---|
| GRCH38 genomic region | 2:47803449-47803449 |
| Gene(s) | MSH6 (+ strand) |
| HGVSc | c.3202C>T (NM_000179.3 ) |
| HGVSp | p.(Arg1068*) |
| Reference sequence | TGTGCCTGGCTAACTATAGTCGAGGGGGTGATGGTCCTATG |
| Non-cancer gnomAD AF | Not available in gnomAD Exomes |
| Custom-max gnomAD AF | Not available in gnomAD Exomes |
| Existing variants | rs63749843,CM021637,COSV52273620 |
| PubMed | 25741868 24323032 20487569 18301448 11807791 15483016 20028993 20379851 23733757 |
| Synonyms | ClinVar::RCV000218336,VCV000233881,RCV000201960,RCV000524156,RCV000074817,VCV000089352,RCV000172816,RCV000160692,RCV000763497,RCV000607176,RCV001253564,RCV001249973 COSMIC::COSM6475266 |
| Expert group classification | |
| ClinVar classification |
Pathogenic
reviewed by expert panel
|
| Laboratory classification |
Allele frequencies
Individuals carrying the variant
This variant was found in .. individuals:
Transcripts