ClinVar

NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

4q27

Genomic location:

• Chr4: 121855500 (on Assembly GRCh38)
• Chr4: 122776655 (on Assembly GRCh37)

Preferred name:

NM_176824.3(BBS7):c.590A>G (p.Asn197Ser)

HGVS:

• NC_000004.12:g.121855500T>C
• NG_009111.1:g.19988A>G
• NM_018190.4:c.590A>G
• NM_176824.3:c.590A>GMANE SELECT
• NP_060660.2:p.Asn197Ser
• NP_789794.1:p.Asn197Ser
• NC_000004.11:g.122776655T>C
• NM_176824.2:c.590A>G

This HGVS expression did not pass validation

Protein change:

N197S

Molecular consequence:

• NM_018190.4:c.590A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_176824.3:c.590A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2