ClinVar

NM_198391.3(FLRT3):c.73T>C (p.Ser25Pro)

Genes:

FLRT3:fibronectin leucine rich transmembrane protein 3 [Gene - OMIM - HGNC]
MACROD2:mono-ADP ribosylhydrolase 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20p12.1

Genomic location:

• Chr20: 14327434 (on Assembly GRCh38)
• Chr20: 14308080 (on Assembly GRCh37)

Preferred name:

NM_198391.3(FLRT3):c.73T>C (p.Ser25Pro)

HGVS:

• NC_000020.11:g.14327434A>G
• NG_033913.1:g.15234T>C
• NG_054905.1:g.336935A>G
• NM_001351661.2:c.272-166045A>GMANE SELECT
• NM_001351663.2:c.272-166045A>G
• NM_013281.4:c.73T>C
• NM_080676.6:c.272-166045A>G
• NM_198391.3:c.73T>CMANE SELECT
• NP_037413.1:p.Ser25Pro
• NP_938205.1:p.Ser25Pro
• NC_000020.10:g.14308080A>G
• NM_198391.2:c.73T>C

This HGVS expression did not pass validation

Protein change:

S25P

Molecular consequence:

• NM_001351661.2:c.272-166045A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_001351663.2:c.272-166045A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_080676.6:c.272-166045A>G - intron variant - [Sequence Ontology: SO:0001627]
• NM_013281.4:c.73T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_198391.3:c.73T>C - missense variant - [Sequence Ontology: SO:0001583]