ClinVar

NM_006832.3(FERMT2):c.1077G>C (p.Gly359=)

Gene:

FERMT2:FERM domain containing kindlin 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q22.1

Genomic location:

• Chr14: 52875244 (on Assembly GRCh38)
• Chr14: 53341962 (on Assembly GRCh37)

Preferred name:

NM_006832.3(FERMT2):c.1077G>C (p.Gly359=)

HGVS:

• NC_000014.9:g.52875244C>G
• NM_001134999.2:c.1077G>C
• NM_001135000.2:c.1077G>C
• NM_006832.3:c.1077G>CMANE SELECT
• NP_001128471.1:p.Gly359=
• NP_001128472.1:p.Gly359=
• NP_006823.1:p.Gly359=
• NC_000014.8:g.53341962C>G

This HGVS expression did not pass validation

Molecular consequence:

• NM_001134999.2:c.1077G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001135000.2:c.1077G>C - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_006832.3:c.1077G>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1