ClinVar

NM_005666.4(CFHR2):c.430+20C>T

Gene:

CFHR2:complement factor H related 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q31.3

Genomic location:

• Chr1: 196951048 (on Assembly GRCh38)
• Chr1: 196920178 (on Assembly GRCh37)

Preferred name:

NM_005666.4(CFHR2):c.430+20C>T

HGVS:

• NC_000001.11:g.196951048C>T
• NG_042816.1:g.12281C>T
• NM_001312672.1:c.59-6843C>T
• NM_005666.4:c.430+20C>TMANE SELECT
• LRG_1216t1:c.430+20C>T
• LRG_1216:g.12281C>T
• NC_000001.10:g.196920178C>T
• NM_005666.3:c.430+20C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs3828032

NCBI 1000 Genomes Browser:

rs3828032

Molecular consequence:

• NM_001312672.1:c.59-6843C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_005666.4:c.430+20C>T - intron variant - [Sequence Ontology: SO:0001627]