ClinVar

NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)

Gene:

FGD4:FYVE, RhoGEF and PH domain containing 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32582103 (on Assembly GRCh38)
• Chr12: 32735037 (on Assembly GRCh37)

Preferred name:

NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile)

HGVS:

• NC_000012.12:g.32582103C>T
• NG_008626.2:g.187575C>T
• NM_001304481.2:c.491C>T
• NM_001304483.2:c.-609C>T
• NM_001304484.2:c.-916C>T
• NM_001330373.2:c.-44C>T
• NM_001330374.2:c.-44C>T
• NM_001370297.1:c.49-16394C>T
• NM_001370298.3:c.647C>TMANE SELECT
• NM_001384126.1:c.647C>T
• NM_001384127.1:c.236C>T
• NM_001384128.1:c.236C>T
• NM_001384130.1:c.-44C>T
• NM_001384131.1:c.236C>T
• NM_001384132.1:c.236C>T
• NM_001385118.1:c.236C>T
• NM_139241.3:c.236C>T
• NP_001291410.1:p.Thr164Ile
• NP_001291410.1:p.Thr164Ile
• NP_001357227.2:p.Thr216Ile
• NP_001371055.1:p.Thr216Ile
• NP_001371056.1:p.Thr79Ile
• NP_001371057.1:p.Thr79Ile
• NP_001371060.1:p.Thr79Ile
• NP_001371061.1:p.Thr79Ile
• NP_001372047.1:p.Thr79Ile
• NP_640334.2:p.Thr79Ile
• LRG_240t1:c.236C>T
• LRG_240t2:c.491C>T
• LRG_240:g.187575C>T
• LRG_240p1:p.Thr79Ile
• LRG_240p2:p.Thr164Ile
• NC_000012.11:g.32735037C>T
• NM_001304481.1:c.491C>T
• NM_139241.2:c.236C>T
• NR_168884.1:n.473C>T

This HGVS expression did not pass validation

Protein change:

T164I

Links:

dbSNP: rs145115430

NCBI 1000 Genomes Browser:

rs145115430

Molecular consequence:

• NM_001304483.2:c.-609C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001304484.2:c.-916C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001330373.2:c.-44C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001330374.2:c.-44C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001384130.1:c.-44C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001370297.1:c.49-16394C>T - intron variant - [Sequence Ontology: SO:0001627]
• NM_001304481.2:c.491C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001370298.3:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384126.1:c.647C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384127.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384128.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384131.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001384132.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001385118.1:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_139241.3:c.236C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_168884.1:n.473C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]