ClinVar

NM_003040.4(SLC4A2):c.3342C>T (p.Pro1114=)

Gene:

SLC4A2:solute carrier family 4 member 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q36.1

Genomic location:

• Chr7: 151075646 (on Assembly GRCh38)
• Chr7: 150772733 (on Assembly GRCh37)

Preferred name:

NM_003040.4(SLC4A2):c.3342C>T (p.Pro1114=)

HGVS:

• NC_000007.14:g.151075646C>T
• NG_051947.1:g.22447C>T
• NM_001199692.3:c.3342C>T
• NM_001199693.1:c.3315C>T
• NM_001199694.2:c.3300C>T
• NM_003040.4:c.3342C>TMANE SELECT
• NP_001186621.1:p.Pro1114=
• NP_001186622.1:p.Pro1105=
• NP_001186623.1:p.Pro1100=
• NP_003031.3:p.Pro1114=
• NC_000007.13:g.150772733C>T
• NM_003040.3:c.3342C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs387907520

NCBI 1000 Genomes Browser:

rs387907520

Molecular consequence:

• NM_001199692.3:c.3342C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199693.1:c.3315C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001199694.2:c.3300C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_003040.4:c.3342C>T - synonymous variant - [Sequence Ontology: SO:0001819]