ClinVar

NM_031471.6(FERMT3):c.1205-16C>T

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64220204 (on Assembly GRCh38)
• Chr11: 63987676 (on Assembly GRCh37)

Preferred name:

NM_031471.6(FERMT3):c.1205-16C>T

HGVS:

• NC_000011.10:g.64220204C>T
• NG_016360.1:g.18525C>T
• NM_001382361.1:c.1205-16C>T
• NM_001382362.1:c.1217-16C>T
• NM_001382363.1:c.665-16C>T
• NM_001382364.1:c.677-16C>T
• NM_001382448.1:c.1205-16C>T
• NM_031471.6:c.1205-16C>TMANE SELECT
• NM_178443.3:c.1217-16C>T
• LRG_180:g.18525C>T
• NC_000011.9:g.63987676C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs537958912

NCBI 1000 Genomes Browser:

rs537958912

Molecular consequence:

• NM_001382361.1:c.1205-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382362.1:c.1217-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382363.1:c.665-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382364.1:c.677-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001382448.1:c.1205-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_031471.6:c.1205-16C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_178443.3:c.1217-16C>T - intron variant - [Sequence Ontology: SO:0001627]