ClinVar

NM_003480.4(MFAP5):c.376C>T (p.Arg126Cys)

Gene:

MFAP5:microfibril associated protein 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 8649534 (on Assembly GRCh38)
• Chr12: 8802130 (on Assembly GRCh37)

Preferred name:

NM_003480.4(MFAP5):c.376C>T (p.Arg126Cys)

HGVS:

• NC_000012.12:g.8649534G>A
• NG_041814.1:g.18355C>T
• NM_001297709.2:c.346C>T
• NM_001297710.2:c.310C>T
• NM_001297711.2:c.301C>T
• NM_001297712.2:c.218-1331C>T
• NM_003480.4:c.376C>TMANE SELECT
• NP_001284638.1:p.Arg116Cys
• NP_001284639.1:p.Arg104Cys
• NP_001284640.1:p.Arg101Cys
• NP_003471.1:p.Arg126Cys
• NC_000012.11:g.8802130G>A
• NM_003480.3:c.376C>T
• NR_123733.2:n.578C>T
• NR_123734.2:n.548C>T

This HGVS expression did not pass validation

Protein change:

R101C

Links:

dbSNP: rs540639689

NCBI 1000 Genomes Browser:

rs540639689

Molecular consequence:

• NM_001297712.2:c.218-1331C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001297709.2:c.346C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297710.2:c.310C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297711.2:c.301C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003480.4:c.376C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_123733.2:n.578C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_123734.2:n.548C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]