ClinVar

NM_001710.6(CFB):c.1524C>T (p.His508=)

Genes:

C2:complement C2 [Gene - OMIM - HGNC]
CFB:complement factor B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.33

Genomic location:

• Chr6: 31950303 (on Assembly GRCh38)
• Chr6: 31918080 (on Assembly GRCh37)

Preferred name:

NM_001710.6(CFB):c.1524C>T (p.His508=)

HGVS:

• NC_000006.12:g.31950303C>T
• NG_008191.1:g.9360C>T
• NM_001710.6:c.1524C>TMANE SELECT
• NP_001701.2:p.His508=
• NP_001701.2:p.His508=
• LRG_136t1:c.1524C>T
• LRG_136:g.9360C>T
• LRG_136p1:p.His508=
• NC_000006.11:g.31918080C>T
• NM_001710.5:c.1524C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs138207668

NCBI 1000 Genomes Browser:

rs138207668

Molecular consequence:

• NM_001710.6:c.1524C>T - synonymous variant - [Sequence Ontology: SO:0001819]