ClinVar

NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

12p11.21

Genomic location:

• Chr12: 32624993 (on Assembly GRCh38)
• Chr12: 32777927 (on Assembly GRCh37)

Preferred name:

NM_001370298.3(FGD4):c.1971C>T (p.Ile657=)

HGVS:

• NC_000012.12:g.32624993C>T
• NG_008626.2:g.230465C>T
• NM_001304481.2:c.1815C>T
• NM_001304483.2:c.816C>T
• NM_001304484.2:c.528C>T
• NM_001330373.2:c.1281C>T
• NM_001330374.2:c.1281C>T
• NM_001370297.1:c.1008C>T
• NM_001370298.3:c.1971C>TMANE SELECT
• NM_001384126.1:c.1971C>T
• NM_001384127.1:c.1560C>T
• NM_001384128.1:c.1560C>T
• NM_001384130.1:c.1281C>T
• NM_001385118.1:c.1560C>T
• NM_139241.3:c.1560C>T
• NP_001291410.1:p.Ile605=
• NP_001291410.1:p.Ile605=
• NP_001291412.1:p.Ile272=
• NP_001291413.1:p.Ile176=
• NP_001317302.1:p.Ile427=
• NP_001317303.1:p.Ile427=
• NP_001357226.1:p.Ile336=
• NP_001357227.2:p.Ile657=
• NP_001371055.1:p.Ile657=
• NP_001371056.1:p.Ile520=
• NP_001371057.1:p.Ile520=
• NP_001371059.1:p.Ile427=
• NP_001372047.1:p.Ile520=
• NP_640334.2:p.Ile520=
• LRG_240t1:c.1560C>T
• LRG_240t2:c.1815C>T
• LRG_240:g.230465C>T
• LRG_240p1:p.Ile520=
• LRG_240p2:p.Ile605=
• NC_000012.11:g.32777927C>T
• NM_001304481.1:c.1815C>T
• NM_139241.2:c.1560C>T
• p.Ile520Ile

This HGVS expression did not pass validation

Links:

dbSNP: rs61748364

NCBI 1000 Genomes Browser:

rs61748364

Molecular consequence:

• NM_001304481.2:c.1815C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304483.2:c.816C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001304484.2:c.528C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330373.2:c.1281C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001330374.2:c.1281C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370297.1:c.1008C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001370298.3:c.1971C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384126.1:c.1971C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384127.1:c.1560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384128.1:c.1560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001384130.1:c.1281C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001385118.1:c.1560C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_139241.3:c.1560C>T - synonymous variant - [Sequence Ontology: SO:0001819]