ClinVar

NM_030787.4(CFHR5):c.829T>A (p.Tyr277Asn)

Gene:

CFHR5:complement factor H related 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 196996060 (on Assembly GRCh38)
• Chr1: 196965190 (on Assembly GRCh37)

Preferred name:

NM_030787.4(CFHR5):c.829T>A (p.Tyr277Asn)

HGVS:

• NC_000001.11:g.196996060T>A
• NG_016365.1:g.23524T>A
• NM_030787.4:c.829T>AMANE SELECT
• NP_110414.1:p.Tyr277Asn
• NP_110414.1:p.Tyr277Asn
• LRG_227t1:c.829T>A
• LRG_227:g.23524T>A
• LRG_227p1:p.Tyr277Asn
• NC_000001.10:g.196965190T>A
• NM_030787.3:c.829T>A
• Q9BXR6:p.Tyr277Asn

This HGVS expression did not pass validation

Protein change:

Y277N

Links:

UniProtKB: Q9BXR6#VAR_063652; UniProtKB/Swiss-Prot: VAR_063652; dbSNP: rs318240756

NCBI 1000 Genomes Browser:

rs318240756

Molecular consequence:

• NM_030787.4:c.829T>A - missense variant - [Sequence Ontology: SO:0001583]