ClinVar

NM_031471.6(FERMT3):c.320G>A (p.Arg107His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.1

Genomic location:

• Chr11: 64210770 (on Assembly GRCh38)
• Chr11: 63978242 (on Assembly GRCh37)

Preferred name:

NM_031471.6(FERMT3):c.320G>A (p.Arg107His)

HGVS:

• NC_000011.10:g.64210770G>A
• NG_016360.1:g.9091G>A
• NM_001382361.1:c.320G>A
• NM_001382362.1:c.320G>A
• NM_001382363.1:c.-221G>A
• NM_001382364.1:c.-221G>A
• NM_001382448.1:c.320G>A
• NM_031471.6:c.320G>AMANE SELECT
• NM_178443.3:c.320G>A
• NP_001369290.1:p.Arg107His
• NP_001369291.1:p.Arg107His
• NP_001369377.1:p.Arg107His
• NP_113659.3:p.Arg107His
• NP_848537.1:p.Arg107His
• LRG_180:g.9091G>A
• NC_000011.9:g.63978242G>A
• NM_031471.5:c.320G>A

This HGVS expression did not pass validation

Protein change:

R107H

Links:

dbSNP: rs138704967

NCBI 1000 Genomes Browser:

rs138704967

Molecular consequence:

• NM_001382363.1:c.-221G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001382364.1:c.-221G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001382361.1:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382362.1:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001382448.1:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031471.6:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_178443.3:c.320G>A - missense variant - [Sequence Ontology: SO:0001583]