ClinVar

NM_176824.3(BBS7):c.186C>T (p.Pro62=)

Gene:

BBS7:Bardet-Biedl syndrome 7 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

• Chr4: 121861659 (on Assembly GRCh38)
• Chr4: 122782814 (on Assembly GRCh37)

Preferred name:

NM_176824.3(BBS7):c.186C>T (p.Pro62=)

HGVS:

• NC_000004.12:g.121861659G>A
• NG_009111.1:g.13829C>T
• NM_018190.4:c.186C>T
• NM_176824.3:c.186C>TMANE SELECT
• NP_060660.2:p.Pro62=
• NP_789794.1:p.Pro62=
• NC_000004.11:g.122782814G>A
• NM_176824.2:c.186C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs35194418

NCBI 1000 Genomes Browser:

rs35194418

Molecular consequence:

• NM_018190.4:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_176824.3:c.186C>T - synonymous variant - [Sequence Ontology: SO:0001819]