ClinVar

NM_003480.4(MFAP5):c.17C>T (p.Pro6Leu)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p13.31

Genomic location:

• Chr12: 8662088 (on Assembly GRCh38)
• Chr12: 8814684 (on Assembly GRCh37)

Preferred name:

NM_003480.4(MFAP5):c.17C>T (p.Pro6Leu)

HGVS:

• NC_000012.12:g.8662088G>A
• NG_041814.1:g.5801C>T
• NM_001297709.2:c.17C>T
• NM_001297710.2:c.17C>T
• NM_001297711.2:c.17C>T
• NM_001297712.2:c.17C>T
• NM_003480.4:c.17C>TMANE SELECT
• NP_001284638.1:p.Pro6Leu
• NP_001284639.1:p.Pro6Leu
• NP_001284640.1:p.Pro6Leu
• NP_001284641.1:p.Pro6Leu
• NP_003471.1:p.Pro6Leu
• NC_000012.11:g.8814684G>A
• NR_123733.2:n.219C>T
• NR_123734.2:n.219C>T

This HGVS expression did not pass validation

Protein change:

P6L

Links:

dbSNP: rs749565352

NCBI 1000 Genomes Browser:

rs749565352

Molecular consequence:

• NM_001297709.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297710.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297711.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001297712.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003480.4:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_123733.2:n.219C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_123734.2:n.219C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]