ClinVar

NM_003506.4(FZD6):c.97A>G (p.Met33Val)

Gene:

FZD6:frizzled class receptor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.3

Genomic location:

• Chr8: 103300204 (on Assembly GRCh38)
• Chr8: 104312432 (on Assembly GRCh37)

Preferred name:

NM_003506.4(FZD6):c.97A>G (p.Met33Val)

HGVS:

• NC_000008.11:g.103300204A>G
• NG_028909.2:g.4211A>G
• NM_001164615.2:c.97A>G
• NM_001164616.2:c.1A>G
• NM_001317796.2:c.-49A>G
• NM_003506.4:c.97A>GMANE SELECT
• NP_001158087.1:p.Met33Val
• NP_001158088.1:p.Met1Val
• NP_003497.2:p.Met33Val
• NC_000008.10:g.104312432A>G
• NG_028909.1:g.6772A>G
• NM_001164616.1:c.1A>G
• NR_133921.2:n.414A>G

This HGVS expression did not pass validation

Protein change:

M1V

Links:

dbSNP: rs827528

NCBI 1000 Genomes Browser:

rs827528

Molecular consequence:

• NM_001317796.2:c.-49A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001164616.2:c.1A>G - initiator_codon_variant - [Sequence Ontology: SO:0001582]
• NM_001164615.2:c.97A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001164616.2:c.1A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_003506.4:c.97A>G - missense variant - [Sequence Ontology: SO:0001583]
• NR_133921.2:n.414A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]