ClinVar

NM_144997.7(FLCN):c.97G>C (p.Asp33His)

Gene:

FLCN:folliculin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p11.2

Genomic location:

• Chr17: 17228041 (on Assembly GRCh38)
• Chr17: 17131355 (on Assembly GRCh37)

Preferred name:

NM_144997.7(FLCN):c.97G>C (p.Asp33His)

HGVS:

• NC_000017.11:g.17228041C>G
• NG_008001.2:g.14148G>C
• NM_001353229.2:c.97G>C
• NM_001353230.2:c.97G>C
• NM_001353231.2:c.97G>C
• NM_144606.7:c.97G>C
• NM_144997.7:c.97G>CMANE SELECT
• NP_001340158.1:p.Asp33His
• NP_001340159.1:p.Asp33His
• NP_001340160.1:p.Asp33His
• NP_653207.1:p.Asp33His
• NP_659434.2:p.Asp33His
• LRG_325t1:c.97G>C
• LRG_325:g.14148G>C
• NC_000017.10:g.17131355C>G
• NM_144997.5:c.97G>C

This HGVS expression did not pass validation

Protein change:

D33H

Links:

dbSNP: rs386833401

NCBI 1000 Genomes Browser:

rs386833401

Molecular consequence:

• NM_001353229.2:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353230.2:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353231.2:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_144606.7:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_144997.7:c.97G>C - missense variant - [Sequence Ontology: SO:0001583]