ClinVar

NM_031471.6(FERMT3):c.683+20C>T

Gene:

FERMT3:FERM domain containing kindlin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64211463 (on Assembly GRCh38)
• Chr11: 63978935 (on Assembly GRCh37)

Preferred name:

NM_031471.6(FERMT3):c.683+20C>T

HGVS:

• NC_000011.10:g.64211463C>T
• NG_016360.1:g.9784C>T
• NM_001382361.1:c.683+20C>T
• NM_001382362.1:c.683+20C>T
• NM_001382363.1:c.143+20C>T
• NM_001382364.1:c.143+20C>T
• NM_001382448.1:c.683+20C>T
• NM_031471.6:c.683+20C>TMANE SELECT
• NM_178443.3:c.683+20C>T
• LRG_180:g.9784C>T
• NC_000011.9:g.63978935C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs1565290775

NCBI 1000 Genomes Browser:

rs1565290775

Molecular consequence:

• NM_001382361.1:c.683+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382362.1:c.683+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382363.1:c.143+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382364.1:c.143+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382448.1:c.683+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_031471.6:c.683+20C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_178443.3:c.683+20C>T - intron variant - [Sequence Ontology: SO:0001627]